ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) (rs779103938)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224289 SCV000841759 likely pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224289 SCV000281442 pathogenic not provided 2015-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000672120 SCV000797187 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2018-01-16 criteria provided, single submitter clinical testing

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