ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)

dbSNP: rs193922543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029650 SCV000052302 likely benign Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054490 SCV002412903 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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