ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1875C>T (p.Pro625=) (rs2673793)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181000 SCV000170621 benign not specified 2013-11-22 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 RCV000181000 SCV000269390 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Pro625Pro in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 19% (1605/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project ( u/EVS/; dbSNP rs2673793).
Ambry Genetics RCV000247879 SCV000317513 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000181000 SCV000740638 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV000024489 SCV001000080 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024489 SCV000045793 not provided not provided 2012-04-27 no assertion provided curation

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