Submissions for variant NM_000257.4(MYH7):c.3861G>C (p.Leu1287=)

gnomAD frequency: 0.00014  dbSNP: rs150292548

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001528893	SCV000513805	likely benign	not provided	2020-08-04	criteria provided, single submitter	clinical testing
Invitae	RCV000527145	SCV000623707	likely benign	Hypertrophic cardiomyopathy	2024-01-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000168896	SCV000710918	likely benign	not specified	2016-05-23	criteria provided, single submitter	clinical testing	p.Leu1287Leu in exon 29 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 31/66738 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs150292548).
Color Diagnostics, LLC DBA Color Health	RCV000771849	SCV000904566	likely benign	Cardiomyopathy	2018-05-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528893	SCV001472816	likely benign	not provided	2021-04-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771849	SCV002042672	likely benign	Cardiomyopathy	2023-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354413	SCV002622912	likely benign	Cardiovascular phenotype	2018-06-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV001528893	SCV003917317	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	MYH7: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003937522	SCV004751767	likely benign	MYH7-related condition	2019-06-07	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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000168896	SCV004803803	likely benign	not specified	2024-01-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528893	SCV001741415	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528893	SCV001970896	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528893	SCV001979560	likely benign	not provided		no assertion criteria provided	clinical testing