ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)

gnomAD frequency: 0.00002  dbSNP: rs765770519
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 RCV001403255 SCV001605120 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488218 SCV002802265 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2021-08-20 criteria provided, single submitter clinical testing

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