Submissions for variant NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)

gnomAD frequency: 0.00002  dbSNP: rs200728597

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758049	SCV000564472	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.5736C>T (p.Ile1912=) variant in the MYH7 gene is 0.36% (72/16512) of South Asian chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035981	SCV000059633	benign	not specified	2015-06-25	criteria provided, single submitter	clinical testing	p.Ile1912Ile in exon 39 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.4% (72/16512) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs200728597).
PreventionGenetics, part of Exact Sciences	RCV000035981	SCV000303252	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554421	SCV000623752	benign	Hypertrophic cardiomyopathy	2023-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618874	SCV000739921	likely benign	Cardiovascular phenotype	2023-07-30	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.
Eurofins Ntd Llc (ga)	RCV000035981	SCV000862862	likely benign	not specified	2018-08-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000758049	SCV000913857	benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000758049	SCV001333061	likely benign	Cardiomyopathy	2018-12-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001529452	SCV001842897	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529452	SCV004129081	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	MYH7: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV000758049	SCV004823471	benign	Cardiomyopathy	2023-12-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529452	SCV001742935	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529452	SCV001926894	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529452	SCV001953675	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529452	SCV002036264	likely benign	not provided		no assertion criteria provided	clinical testing