ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) (rs3729821)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619687 SCV000735876 benign Cardiovascular phenotype 2017-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000035895 SCV000614144 benign not specified 2017-03-02 criteria provided, single submitter clinical testing
Color RCV000771805 SCV000904505 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000035895 SCV000170533 benign not specified 2014-01-18 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.
Illumina Clinical Services Laboratory,Illumina RCV000361168 SCV000385975 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266458 SCV000385976 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321669 SCV000385977 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376295 SCV000385978 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272192 SCV000385979 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000361168 SCV000557979 likely benign Hypertrophic cardiomyopathy 2018-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035895 SCV000059546 likely benign not specified 2010-05-03 criteria provided, single submitter clinical testing p.Ser1413Ser in exon 31 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 4/8600 European A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs3729821).
PreventionGenetics RCV000035895 SCV000303234 benign not specified criteria provided, single submitter clinical testing

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