ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)

gnomAD frequency: 0.00005  dbSNP: rs766116884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945535 SCV001091560 benign Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2024-01-12 criteria provided, single submitter clinical testing

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