ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)

gnomAD frequency: 0.00005  dbSNP: rs200151403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817652 SCV002072184 uncertain significance not specified 2017-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478062 SCV002793170 uncertain significance Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001817652 SCV004028763 uncertain significance not specified 2023-07-24 criteria provided, single submitter clinical testing

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