ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1662A>C (p.Ala554=) (rs71584488)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000532204 SCV000745049 likely benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000532204 SCV000732948 likely benign Dilated cardiomyopathy 1KK no assertion criteria provided clinical testing
Invitae RCV000532204 SCV000659181 likely benign Dilated cardiomyopathy 1KK 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825204 SCV000966481 likely benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala554Ala 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 2/8600 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs71584488).
Leiden Muscular Dystrophy (MYPN) RCV000024495 SCV000045799 not provided not provided 2012-04-27 no assertion provided curation

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