ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.2447C>T (p.Pro816Leu) (rs111965755)

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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 RCV000617579 SCV000735663 benign Cardiovascular phenotype 2015-09-29 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 RCV000172771 SCV000051583 benign not specified 2013-06-24 criteria provided, single submitter research
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000230526 SCV000745058 benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000172771 SCV000170628 benign not specified 2014-03-18 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 RCV000230526 SCV000743688 benign Dilated cardiomyopathy 1KK 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000230526 SCV000291113 benign Dilated cardiomyopathy 1KK 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000172771 SCV000269398 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro816Leu in exon 12 of MYPN: This variant is not expected to have clinical sign ificance because it has been identified in 3.5% (155/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs111965755).

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