ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.2410G>A (p.Gly804Arg) (rs62620248)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244723 SCV000317750 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172770 SCV000051582 benign not specified 2013-06-24 criteria provided, single submitter research
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000461832 SCV000745056 benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000172770 SCV000170627 benign not specified 2013-12-09 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000461832 SCV000743687 benign Dilated cardiomyopathy 1KK 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV000461832 SCV000563301 benign Dilated cardiomyopathy 1KK 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000172770 SCV000269397 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly804Arg in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 3.5% (301/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs62620248).
Leiden Muscular Dystrophy (MYPN) RCV000024502 SCV000045806 not provided not provided 2012-04-27 no assertion provided curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000172770 SCV000740640 benign not specified 2016-06-13 criteria provided, single submitter clinical testing

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