ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)

dbSNP: rs28934586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332501 SCV001524845 pathogenic Deficiency of steroid 11-beta-monooxygenase 2019-11-04 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989685 SCV004807984 pathogenic Glucocorticoid-remediable aldosteronism 2024-03-29 criteria provided, single submitter clinical testing

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