ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)

gnomAD frequency: 0.00003  dbSNP: rs121912812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019072 SCV000039359 pathogenic Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2006-08-01 no assertion criteria provided literature only

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