ClinVar Miner

Submissions for variant NM_001256267.1(MYPN):c.2886= (p.Val962=) (rs10733838)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216976 SCV000269399 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val962Val in exon 14 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 4.2% (184/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs10733838).
Invitae RCV000024492 SCV001000085 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024492 SCV000045796 not provided not provided 2012-04-27 no assertion provided curation

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