ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.2163C>A (p.Ala721=) (rs71584491)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181004 SCV000170625 benign not specified 2013-12-17 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000181004 SCV000269395 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala721Ala in exon 12 of MYPN: 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 10.4% (458/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs71584491).
Ambry Genetics RCV000252596 SCV000317829 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Invitae RCV000024499 SCV000563290 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000181004 SCV000740639 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024499 SCV000045803 not provided not provided 2012-04-27 no assertion provided curation

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