ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1869C>A (p.Thr623=) (rs61854624)

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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 RCV000242510 SCV000317512 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 RCV000180999 SCV000170620 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 RCV000180999 SCV000269389 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Thr623Thr in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 17% (1492/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project ( u/EVS/; dbSNP rs61854624).
Leiden Muscular Dystrophy (MYPN) RCV000024496 SCV000045800 not provided not provided 2012-04-27 no assertion provided curation

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