ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1935C>T (p.Pro645=) (rs71535754)

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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 RCV000254442 SCV000319003 likely benign Cardiovascular phenotype 2017-10-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000477347 SCV000745053 likely benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000477347 SCV000732951 likely benign Dilated cardiomyopathy 1KK no assertion criteria provided clinical testing
GeneDx RCV000214651 SCV000515719 likely benign not specified 2018-01-25 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 RCV000477347 SCV000563294 benign Dilated cardiomyopathy 1KK 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214651 SCV000270584 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing p.Pro645Pro in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (78/65720) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs71535754).
Leiden Muscular Dystrophy (MYPN) RCV000024498 SCV000045802 not provided not provided 2012-04-27 no assertion provided curation

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