ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) (rs104894070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517938 SCV000613039 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
OMIM RCV000001245 SCV000021395 pathogenic Deficiency of steroid 11-beta-monooxygenase 2006-07-01 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029646 SCV000052298 not provided Congenital adrenal hyperplasia 2015-10-02 no assertion provided clinical testing
Counsyl RCV000001245 SCV000793456 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-08-16 no assertion criteria provided clinical testing

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