Submissions for variant NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)

gnomAD frequency: 0.00002  dbSNP: rs727503199

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151123	SCV000198899	likely benign	not specified	2013-05-31	criteria provided, single submitter	clinical testing	Gly531Gly in exon 17 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Gly531Gly in exon 17 of MYBPC3 (allele freq uency = n/a)
GeneDx	RCV001719935	SCV000729092	likely benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28679633)
Ambry Genetics	RCV000620223	SCV000735756	likely benign	Cardiovascular phenotype	2017-01-26	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000608015	SCV000743560	likely benign	Hypertrophic cardiomyopathy 4	2016-11-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182269	SCV001347662	likely benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001410296	SCV001612341	likely benign	Hypertrophic cardiomyopathy	2025-01-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000151123	SCV002547932	likely benign	not specified	2022-05-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001410296	SCV004842466	likely benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608015	SCV000733049	likely benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001719935	SCV001972878	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001719935	SCV001978836	likely benign	not provided		no assertion criteria provided	clinical testing