ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys)

dbSNP: rs1554652796
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625626 SCV000746127 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-09-18 no assertion criteria provided clinical testing

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