ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.206C>T (p.Thr69Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011926 SCV005633233 uncertain significance Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2024-02-14 criteria provided, single submitter clinical testing

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