Submissions for variant NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)

gnomAD frequency: 0.00009  dbSNP: rs201171029

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035960	SCV000059612	benign	not specified	2012-07-07	criteria provided, single submitter	clinical testing	Glu1787Glu in exon 37 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. This variant is listed in dbSNP and 1000 geno mes with a frequency of 7.6% (10/132) in the Mexican American population (rs2011 71029). Glu1787Glu in exon 37 of MYH7 (rs201171029; allele frequency = 7.6, 10 /132)
GeneDx	RCV000035960	SCV000208431	benign	not specified	2014-07-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000035960	SCV000337975	benign	not specified	2015-12-09	criteria provided, single submitter	clinical testing
Invitae	RCV001086393	SCV000623738	likely benign	Hypertrophic cardiomyopathy	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712362	SCV000842836	benign	not provided	2018-05-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712362	SCV000885787	benign	not provided	2018-03-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777860	SCV000913863	benign	Cardiomyopathy	2018-07-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345281	SCV002647119	likely benign	Cardiovascular phenotype	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.