ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.945C>T (p.Ser315=)

gnomAD frequency: 0.00003  dbSNP: rs372647044
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 RCV000874770 SCV001016996 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501333 SCV002808165 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-01-17 criteria provided, single submitter clinical testing

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