ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)

gnomAD frequency: 0.00216  dbSNP: rs61752765
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 RCV000874906 SCV001017142 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501336 SCV002810149 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2021-08-05 criteria provided, single submitter clinical testing

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