ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.-10G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040619 SCV005675163 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967182 SCV004780269 likely benign CYP11B1-related disorder 2020-05-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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