ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1647T>C (p.Ser549=) (rs2673794)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247309 SCV000317619 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000180998 SCV000170619 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 RCV000180998 SCV000269388 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Ser549Ser in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 70% (5986/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project ( u/EVS/; dbSNP rs2673794).
Leiden Muscular Dystrophy (MYPN) RCV000024488 SCV000045792 not provided not provided 2012-04-27 no assertion provided curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000180998 SCV000740635 benign not specified 2016-05-13 criteria provided, single submitter clinical testing

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