ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)

gnomAD frequency: 0.00012  dbSNP: rs193922545
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Total submissions: 5
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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 RCV000029652 SCV000052304 likely benign Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000245453 SCV000304555 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000245453 SCV001880048 benign not specified 2020-12-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003313926 SCV002046126 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003313926 SCV004013245 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing PM2

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