ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003809065 SCV004596680 likely benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003809065 SCV005682841 uncertain significance Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-03-11 criteria provided, single submitter clinical testing

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