ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs200728597
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Total submissions: 15
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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
Invitae 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 2023-07-01 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

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