ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) (rs397516064)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035654 SCV000059305 likely benign not specified 2015-10-28 criteria provided, single submitter clinical testing p.Arg215Arg in exon 5 of MYBPC3: 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 1/61574 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; rs397516064).
Invitae RCV000551416 SCV000623617 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625032 SCV000743576 likely benign Familial hypertrophic cardiomyopathy 4 2017-10-13 criteria provided, single submitter clinical testing
Color RCV001178612 SCV001343098 likely benign Cardiomyopathy 2019-09-09 criteria provided, single submitter clinical testing

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