ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)

gnomAD frequency: 0.00001  dbSNP: rs778601992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445243 SCV001648269 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495626 SCV002804171 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001445243 SCV005220064 likely benign not provided criteria provided, single submitter not provided

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