ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002790619 SCV003033737 likely benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-10-16 criteria provided, single submitter clinical testing

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