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ClinGen Gene-Disease Validity Curation Module - Version 2023
 Available for current members of ClinGen Gene Curation Expert Panels (GCEPs)

Date of Release: January 1, 2023
Expiration Date: December 31, 2023 (The module is set up on a calendar year schedule, please submit curations completed in the current calendar year by December 31st. A new cycle begins on January 1st of the next calendar year)
Educational Credits Offered: CME, P.A.C.E.®,NSGC Category 2 (Self-report)
Estimate Time of Completion: 10 hours per curation
Course must be completed by the expiration date



The Clinical Genome Resource (ClinGen is an NIH-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.


In 2017, ClinGen published “Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource” (Strande et al. 2017, PMCID: PMC5473734). The framework involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease. This framework 1) defines the criteria needed to assess clinical validity, 2) describes the evidence supporting a gene-disease association in a semi-quantitative manner, and 3) allows biocurators to use this information to methodically classify the validity of a given gene-disease pair.


ClinGen forms Gene Curation Expert Panels (GCEPs) to implement the approved process of gene-disease validity evaluation. Each GCEP is focused on a particular disease area (for example, hereditary cancer, intellectual disability/autism, hearing loss, etc.) and includes members with clinical care, research, and diagnostic laboratory expertise within that domain, as well as biocurators with experience in the gene-disease validity process. In most cases, a biocurator completes the initial gene-disease curation and arrives at a provisional classification, followed by presentation of the data to the GCEP for expert review and final approval. GCEPs utilize the ClinGen Gene Curation Interface (GCI) for documentation of gene-disease validity classifications, and all curations completed by the group are made publicly available through the ClinGen website (

For questions about eligibility and content, please contact For technical questions, please contact


Learning Objectives

  • Use the ClinGen gene-disease clinical validity curation process to evaluate the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease
  • Perform a literature search to identify relevant publications to support a gene curation
  • Score collected/collated evidence in the ClinGen GCI to determine a provisional classification for a gene-disease pair based on guidelines
  • Present evidence summary supporting provisional classification for expert approval
  • Publish approved gene curation to 


For the purpose of this module, learning objectives will be demonstrated by the learner by submitting a ClinGen GCEP-approved gene-disease curation final evidence summary published on  

Each curation has been approved for up to 10 hours of credit. You may submit up to 10 curations per year. Please complete a separate module for each curation you are submitting.

Target Audience

This ClinGen Gene-Disease Validity Curation module is intended to provide learners with educational credit for participating in ClinGen gene curation activities and is available to individuals who are existing members of ClinGen GCEPs and have had at least one gene curation previously approved by a ClinGen GCEP.


Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, et al. 2017. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am. J. Hum. Genet. 100(6):895–906

Planning and Faculty


Danielle Azzariti, MS, CGC

Senior Project Manager

Broad Institute of MIT and Harvard

Johnathan Berg, MD, FACMG

Professor, Department of Genetics

University of North Carolina at Chapel Hill

Marina DiStefano, PhD

Assistant Professor

Clinical Laboratory Director

Board Eligible Clinical Molecular Geneticist 

Jenny Goldstein, PhD, CGC

Senior Biocurator, Supervisor

ClinGen Biocuration Core

Erin Rooney Riggs, MS, CGC

Assistant Professor

Autism & Developmental Medicine Institute


Courtney Thaxton, PhD

Assistant Director

UNC Biocuration and Coordination Core

Meredith Weaver, PhD, ScM, CGC

Associate Project Director

American College of Medical Genetics & Genomics




Accredited Continuing Education Information

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of The American College of Medical Genetics and ClinGen - Clinical Genome Resource Genomics and is accredited by the ACCME to provide continuing medical education for physicians.

CME Credit Designation

The American College of Medical Genetics and Genomics designates this enduring material for a maximum of 10 hours in AMA PRA Category 1 Credits™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.


National Society of Genetic Counselors (NSGC)

This activity meets requirements to apply for Category 2 CEUs from the National Society of Genetic Counselors (NSGC). Please complete the module and submit your certificate to NSGC, using the instructions for “How Do I Get Category 2 CEUs?” on ACMG is the accredited sponsor. You must apply within three months of the activity date, but you will be able to submit up to 10 curations under one $25 fee for this activity.


Claiming your Educational Credits

  • Invitation code
  • Provide a record of a ClinGen GCEP-approved, published classification below, including:
  • Gene Name
  • Disease Name
  • url of Gene-Disease Curation
  • Upload a PDF of the approved and published evidence summary from the GCI
  • Gene-Disease Classification Approval Date
  • Evaluation (required for self-reporting)

Please note: In the Self Report section, you will be asked how many CMEs are requested. 1 CME is the equivalent of one hour. Please use that field to document the number of hours (maximum of 10) you spent gathering, evaluating and scoring evidence as well as presenting to the GCEP for approval.

Financial Disclosures

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.


ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.


ACMG Education Policies

Please review the policies below regarding the ACMG Education program


All of the relevant financial relationships listed for these individuals have been mitigated.


Program Committee Member | Reviewer

Financial Disclosure Relationship/Company

Courtney Thaxton, PhD


Nothing to disclose

Danielle Azzariti, MS, CGC


Nothing to disclose

Erin Rooney Riggs, MS, CGC


Nothing to disclose

Jenny Goldstein, PhD, CGC


Nothing to disclose

Johnathan Berg, MD, FACMG


Nothing to disclose

Marina DiStefano, PhD


Nothing to disclose

Meredith Weaver, PhD, ScM, CGC


Nothing to disclose


ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Questions regarding CE credit should be directed to


Availability: Retired
Cost: FREE
Credit Offered:
No Credit Offered

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