ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)

gnomAD frequency: 0.00001  dbSNP: rs1377203108
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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 RCV002108002 SCV002393340 likely benign not provided 2023-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494241 SCV002797464 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2021-10-21 criteria provided, single submitter clinical testing

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