ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2334C>T (p.Asp778=) (rs2069544)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247521 SCV000319846 likely benign Cardiovascular phenotype 2015-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777609 SCV000913476 likely benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000035783 SCV000170516 benign not specified 2015-01-29 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.
Genetic Services Laboratory, University of Chicago RCV000035783 SCV000248113 uncertain significance not specified 2014-09-19 criteria provided, single submitter clinical testing
Invitae RCV000556359 SCV000623666 likely benign Hypertrophic cardiomyopathy 2017-08-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035783 SCV000059434 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.Asp778Asp in exon 21 of MYH7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 26/66694 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP rs2069544).

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