Submissions for variant NM_000256.3(MYBPC3):c.666C>T (p.Phe222=)

gnomAD frequency: 0.00011  dbSNP: rs371331114

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474221	SCV000558156	likely benign	Hypertrophic cardiomyopathy	2024-12-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617506	SCV000740138	likely benign	Cardiovascular phenotype	2017-03-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001653843	SCV001861864	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798847	SCV002042227	likely benign	Cardiomyopathy	2020-06-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330705	SCV004038001	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000474221	SCV004821503	likely benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001798847	SCV006061548	likely benign	Cardiomyopathy	2022-11-06	criteria provided, single submitter	clinical testing