ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2437-11del

dbSNP: rs727502998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150561 SCV000197802 benign not specified 2013-04-20 criteria provided, single submitter clinical testing 2437-11delT in intron 17 of DSP: This variant is not expected to have clinical s ignificance because it has been identified in 18% (1498/8254) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
GeneDx RCV001529581 SCV001948987 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529581 SCV001743250 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000150561 SCV001954795 benign not specified no assertion criteria provided clinical testing
Institute of Human Genetics, University of Wuerzburg RCV004596074 SCV005088669 not provided Hypertrophic cardiomyopathy 2 no assertion provided clinical testing

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