ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.118C>T (p.Leu40=)

gnomAD frequency: 0.82940  dbSNP: rs6468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244556 SCV000304543 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658178 SCV001876492 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519883 SCV003332121 benign not provided 2025-01-26 criteria provided, single submitter clinical testing

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