Rates of cardiomyopathy in probands and their family members from a large, unselected healthcare cohort
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Presenting Author - Kristy DiLoreto, MS; Co-Author - Juliann M. Savatt, MS, CGC; Co-Author - Amie Decker, BS; Co-Author - Megan Betts, MS, CGC; Co-Author - Kristen D. Yu, MS; Co-Author - Melissa A. Kelly, MS, CGC;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Clinical History
Phenotype
Population Genetics
Co-Author Juliann M. Savatt, MS, CGC
Co-Author Amie Decker, BS
Co-Author Megan Betts, MS, CGC
Co-Author Kristen D. Yu, MS
Co-Author Melissa A. Kelly, MS, CGC
Presenting Author Kristy DiLoreto, MS
Keywords
study
pathogenic variants
hypertrophic cardiomyopathy
genetic counseling
family history data
cardiomyopathy risk
clinical management recommendations
MYBPC3 variant
MYH7 variant
population-based genomic screening

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