ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)

dbSNP: rs1554653185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673116 SCV000798284 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2018-03-09 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000673116 SCV004190260 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-11-20 criteria provided, single submitter clinical testing ACMG:PS3 PM1 PM2 PM3 PP3 PP4

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