ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.596-8C>T

gnomAD frequency: 0.00001  dbSNP: rs1201914437
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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 RCV001397543 SCV001599296 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493949 SCV002796653 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2021-09-17 criteria provided, single submitter clinical testing

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