Submissions for variant NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)

gnomAD frequency: 0.00011  dbSNP: rs35690719

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035401	SCV000059049	likely benign	not specified	2015-03-27	criteria provided, single submitter	clinical testing	p.Asp489Asp in exon 17 of MYBPC3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (29/8624) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs35690719).
Invitae	RCV000232444	SCV000284210	benign	Hypertrophic cardiomyopathy	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001311764	SCV000729091	likely benign	not provided	2020-12-11	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000611831	SCV000744851	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001186655	SCV001353187	benign	Cardiomyopathy	2018-08-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390141	SCV002697477	likely benign	Cardiovascular phenotype	2018-04-23	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.
PreventionGenetics, part of Exact Sciences	RCV004549412	SCV004719140	likely benign	MYBPC3-related disorder	2019-07-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health	RCV000232444	SCV004834621	benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611831	SCV000733050	likely benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001311764	SCV001927625	likely benign	not provided		no assertion criteria provided	clinical testing