ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)

gnomAD frequency: 0.00001  dbSNP: rs775013399
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001450223 SCV001653825 likely benign not provided 2023-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501579 SCV002806256 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2021-10-11 criteria provided, single submitter clinical testing

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