OasisLMS

OMIM Molecular Series A View of the Phenotypic Consequences of Related Etiology

What’s in the Neighborhood Exploration of Phenotypes and Genes in Genomic Regions with GeneScout

Genomic and Immunological Characterization of RAG-Deficient SCID Implications for Personalized Therapeutic Approaches

The ClinGen Syndromic Disorders Gene Curation Expert Panel

Variant Classification Rules for Ornithine Transcarbamylase, N-Acetylglutamate Synthase, and Carbamylphosphate Synthetase 1

The Hybrid Experience A Retrospective Review of ‘Novel’ CYP2D6CYP2D7 Alleles

Challenges of Classifying Variants Associated with Disorders of Somatic Mosaicism and Classification Framework Creation

ClinGen Congenital Heart Disease GCEP and VCEP Evaluating the Clinical Validity of Gene-Disease Relationships in Isolated Congenital Heart Disease

Reanalysis of Pediatric Cohort Undergoing Hereditary Cancer Predisposition Testing Using Bayesian Classification Framework

A Quantitative Bayesian Informed Approach to TP53-Specific Germline Variant Curation Revised Variant Curation Guidelines Improve Analysis of Germline TP53 Variants for Li-Fraumeni Syndrome

Exploring the Diagnostic Ability of RNA-Seq to Identify Disease-Causing Variants in Muscular Dystrophy

Progress in Curating Gene-Disease Validity for Kidney Cystic and Ciliopathy Disorders to Inform Genomic Interpretation

An Ongoing Collaboration the Association for Creatine Deficiencies and the Clinical Genome Resource Work Together to Facilitate Variant Classification

Using MAVE Functional Data for VUS Reclassification in MSH2

RPGR Variant Curation Using Adapted ACMG_AMP Guidelines

Refinement of RUNX1 Variant Curation Through Bayesian Modeling

Upcoming Changes to the Version 3 RUNX1 Curation Rules

Secondary Findings Analysis in the Personalized Environment and Genes Study Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern

Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature

Updates from the ClinGen X-linked Inherited Retinal Disease

Pushing the Limit(ed)s Modifications to a Gene-Disease Validity Framework for Common Diseases and the Impact on Clinical Utility of Genetic Testing

Sherloc-Based Curation of Gene-Disease Association Strength and Disease Mechanism

Somatic Genomic Testing and Variant Curation Practices in Australian and New Zealand Diagnostic Testing Labs

ClinGen Curation of ClinVar Addressing Gene-Disease Evidence and Variant Pathogenicity Discordance

ClinGen HBOP VCEP Curation of ATM Variants Associated with Ataxia-Telangiectasia

Deciphering the Collagen Code Navigating Variant Curation Complexities in Skeletal Disorders

Specifications of ACMG AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants Recommendations by ClinGen’s Severe Combined Immunodeficiency Disease

Estimating the Genetic Prevalence of Congenital Hyperinsulinism Workflow and Challenges in ABCC8

Criteria Specification Registry and Evidence Repository - Dissemination Of ClinGen Variant Curation Knowledge

Fantastic PCD Phenotypes and Where To Find Them A Comparison of Three PCD Genes and Their Phenotypes

Insights from Annotating the Literature on Peroxisomal Biogenesis Disorders due to PEX1 Defects

Recuration of Hearing Loss Associated-genes Demonstrate Significant Change in Gene-disease Validity Over Time

Curating the Fetal Genome Experience of the ClinGen Prenatal Gene Curation Expert Panel

Specifying the ACMGAMP Sequence Variant Interpretation Guidelines for Congenital Myopathies

ClinGen Glucose-6-phosphate Dehydrogenase (G6PD) Variant Curation Expert Panel Addressing the Need for Genetic Variant Classification in G6PD Deficiency

Performance of REVEL Scores in PAH VCEP Variants Submitted to ClinVar

A CYP2B6 Novel Allele: Expanding Genotypic Diversity

ClinVar-Based Automated Classifier Accelerates Variant Interpretation for Cancer Predisposition Syndromes

Structural and Functional Assessment of Patient-associated Variants in KCNMA1

The ClinGen Variant Curation Interface and Linked Data Hub Support Data Standards in Variant Curation

Assessing ClinGen Expert Panel Use of ACMG Guidelines and ClinGen Guidance on Evidence Code Combing Rules to Inform the Transition to New Curation Frameworks

Enhancing the AI-readiness of gnomAD v4 with Integrated GA4GH Genomic Knowledge Standards