ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.948G>C (p.Val316=)

gnomAD frequency: 0.00001  dbSNP: rs778295450
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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 RCV001480482 SCV001684799 likely benign not provided 2022-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488284 SCV002795195 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-01-11 criteria provided, single submitter clinical testing

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