ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1399G>A (p.Glu467Lys) (rs74143030)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242920 SCV000318783 benign Cardiovascular phenotype 2015-06-26 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172765 SCV000051577 benign not specified 2013-06-24 criteria provided, single submitter research
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000472755 SCV000745047 benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000172765 SCV000170618 benign not specified 2013-12-10 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000472755 SCV000743683 benign Dilated cardiomyopathy 1KK 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000472755 SCV000563288 benign Dilated cardiomyopathy 1KK 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000172765 SCV000269387 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Glu467Lys in exon 8 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 14.4% (636/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs74143030).
Leiden Muscular Dystrophy (MYPN) RCV000024520 SCV000045824 not provided not provided 2012-04-27 no assertion provided curation

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