ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)

gnomAD frequency: 0.00001  dbSNP: rs762341335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998521 SCV001154635 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181479 SCV001346631 likely benign Cardiomyopathy 2023-09-25 criteria provided, single submitter clinical testing
Invitae RCV001858881 SCV002214205 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-18 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000998521 SCV001979550 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000998521 SCV001980023 likely benign not provided no assertion criteria provided clinical testing

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