Submissions for variant NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=)

gnomAD frequency: 0.00004  dbSNP: rs377227442

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035452	SCV000059100	likely benign	not specified	2015-07-07	criteria provided, single submitter	clinical testing	p.Phe638Phe in exon 20 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 3/21968 European chromosomes and 1/3290 African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs377227442).
Invitae	RCV000531968	SCV000623540	likely benign	Hypertrophic cardiomyopathy	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619776	SCV000736606	likely benign	Cardiovascular phenotype	2016-06-10	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	RCV001191837	SCV001359751	likely benign	Cardiomyopathy	2018-10-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001191837	SCV002042149	likely benign	Cardiomyopathy	2021-04-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000531968	SCV004842423	likely benign	Hypertrophic cardiomyopathy	2024-01-11	criteria provided, single submitter	clinical testing