ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)

gnomAD frequency: 0.00005  dbSNP: rs61751135
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 RCV001463995 SCV001667954 likely benign not provided 2023-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495673 SCV002804176 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-04-22 criteria provided, single submitter clinical testing

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