ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.909+17T>C

gnomAD frequency: 0.81403  dbSNP: rs12942034
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245888 SCV000308774 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245888 SCV000513312 benign not specified 2015-03-12 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-Nilou Lab RCV001730616 SCV001980852 benign Arrhythmogenic right ventricular dysplasia 12 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730615 SCV001980853 benign Naxos disease 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV002058105 SCV002405134 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000245888 SCV001743284 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000245888 SCV001921653 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245888 SCV001931829 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245888 SCV001956113 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245888 SCV001964040 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003126654 SCV003802973 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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