ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.1353G>A (p.Leu451=)

gnomAD frequency: 0.01487  dbSNP: rs79833327
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870947 SCV001012524 benign Oligosynaptic infertility; 46,XY disorder of sex development 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001644851 SCV001858269 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644851 SCV005322579 benign not provided criteria provided, single submitter not provided

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