ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1178T>C (p.Val393Ala) (rs11596653)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247559 SCV000317988 benign Cardiovascular phenotype 2015-06-19 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172764 SCV000051576 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172764 SCV000170614 benign not specified 2013-12-10 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.
Invitae RCV000466101 SCV000563304 benign Dilated cardiomyopathy 1KK 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000172764 SCV000269385 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val393Ala in exon 6 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 33.2% (1464/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11596653).
Leiden Muscular Dystrophy (MYPN) RCV000024486 SCV000045790 not provided not provided 2012-04-27 no assertion provided curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000172764 SCV000740637 benign not specified 2016-05-13 criteria provided, single submitter clinical testing

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