ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)

gnomAD frequency: 0.00406  dbSNP: rs112775648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872882 SCV001014771 benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001569454 SCV001793534 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817022 SCV002066395 benign not specified 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000872882 SCV002804338 likely benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2021-07-15 criteria provided, single submitter clinical testing

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