ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.3421G>A (p.Ala1141Thr) (rs150404143)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618665 SCV000736488 benign Cardiovascular phenotype 2015-08-21 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 RCV000172773 SCV000051414 benign not specified 2013-06-24 criteria provided, single submitter research
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000228573 SCV000745067 benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000172773 SCV000513844 benign not specified 2015-04-30 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.
Invitae RCV000228573 SCV000291121 benign Dilated cardiomyopathy 1KK 2017-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000172773 SCV000269404 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala1141Thr in exon 18 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (60/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs150404143).

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