ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)

dbSNP: rs1816868757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM RCV001290137 SCV001469111 pathogenic Deficiency of steroid 11-beta-monooxygenase 2018-03-01 criteria provided, single submitter clinical testing

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