ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.561C>T (p.Asp187=)

gnomAD frequency: 0.00004  dbSNP: rs772530391
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 RCV000871336 SCV001012972 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501307 SCV002807869 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-02-07 criteria provided, single submitter clinical testing

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