ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.799+5G>C (rs193922542)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029649 SCV000052301 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Athena Diagnostics Inc RCV000517998 SCV000613042 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing
Counsyl RCV000665430 SCV000789551 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-02-08 criteria provided, single submitter clinical testing

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