ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro)

dbSNP: rs387906601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022465 SCV000043754 pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2009-03-01 no assertion criteria provided literature only

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