Submissions for variant NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=)

gnomAD frequency: 0.00022  dbSNP: rs369999866

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456673	SCV000558151	likely benign	Hypertrophic cardiomyopathy	2025-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620639	SCV000736887	likely benign	Cardiovascular phenotype	2017-07-19	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.
Color Diagnostics, LLC DBA Color Health	RCV001185257	SCV001351432	likely benign	Cardiomyopathy	2019-09-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001613301	SCV001471090	likely benign	not provided	2019-12-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001358769	SCV001554641	likely benign	not specified	2021-03-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001613301	SCV001837074	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000456673	SCV004836638	likely benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing