ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) (rs104894069)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001238 SCV000021388 pathogenic Deficiency of steroid 11-beta-monooxygenase 1997-10-01 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029642 SCV000052294 not provided Congenital adrenal hyperplasia 2015-10-02 no assertion provided clinical testing

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