ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1251G>A (p.Gln417=) (rs10997948)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252830 SCV000317451 benign Cardiovascular phenotype 2015-06-12 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
GeneDx RCV000180996 SCV000170617 benign not specified 2013-11-13 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 RCV000180996 SCV000269386 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Gln417Gln in exon 7 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 16% (702/4406) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNPrs10997948).
Leiden Muscular Dystrophy (MYPN) RCV000024487 SCV000045791 not provided not provided 2012-04-27 no assertion provided curation

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