Submissions for variant NM_000256.3(MYBPC3):c.1347G>T (p.Val449=)

gnomAD frequency: 0.00004  dbSNP: rs539453748

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000773377	SCV000907071	likely benign	Cardiomyopathy	2018-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523232	SCV001732906	benign	Hypertrophic cardiomyopathy	2024-05-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000936099	SCV001894020	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386336	SCV002690277	likely benign	Cardiovascular phenotype	2019-04-15	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000773377	SCV003837593	likely benign	Cardiomyopathy	2021-11-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001523232	SCV004834634	likely benign	Hypertrophic cardiomyopathy	2023-11-02	criteria provided, single submitter	clinical testing