ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1022G>A (p.Arg341His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040977 SCV005675076 uncertain significance Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-04-08 criteria provided, single submitter clinical testing

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