ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.3403C>A (p.Pro1135Thr) (rs7079481)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252665 SCV000317454 benign Cardiovascular phenotype 2015-06-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172772 SCV000051584 benign not specified 2013-06-24 criteria provided, single submitter research
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625362 SCV000745066 benign Dilated cardiomyopathy 1KK 2017-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000172772 SCV000170635 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 RCV000172772 SCV000269403 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Pro1135Thr in exon 18 of MYPN: This variant is not expected to have clinical s ignificance because it has been identified in 48% (4116/8600) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; dbSNP rs7079481).
Leiden Muscular Dystrophy (MYPN) RCV000024493 SCV000045797 not provided not provided 2012-04-27 no assertion provided curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000172772 SCV000740632 benign not specified 2016-05-13 criteria provided, single submitter clinical testing

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