ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=)

gnomAD frequency: 0.00031  dbSNP: rs147405344
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896574 SCV001040672 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505294 SCV002811758 likely benign Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2022-04-29 criteria provided, single submitter clinical testing

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