ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.871-20C>T

dbSNP: rs2297605
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001709726 SCV001937595 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002070348 SCV002403755 benign Oligosynaptic infertility; 46,XY disorder of sex development 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528710 SCV001740914 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528710 SCV001957238 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528710 SCV001972330 benign not specified no assertion criteria provided clinical testing

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