ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)

gnomAD frequency: 0.00090  dbSNP: rs61732108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991866 SCV001143694 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805959 SCV002050901 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488087 SCV002801034 likely benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000991866 SCV005225563 likely benign not provided criteria provided, single submitter not provided

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