Submissions for variant NM_000256.3(MYBPC3):c.3471C>T (p.Pro1157=)

dbSNP: rs962554743

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000937887	SCV001083681	likely benign	Hypertrophic cardiomyopathy	2024-11-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001186706	SCV001353260	likely benign	Cardiomyopathy	2018-11-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000937887	SCV004836593	likely benign	Hypertrophic cardiomyopathy	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004639416	SCV005144242	likely benign	Cardiovascular phenotype	2024-03-29	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529744	SCV001743731	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529744	SCV001975084	likely benign	not provided		no assertion criteria provided	clinical testing