ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) (rs144029176)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987669 SCV001137079 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-05-28 criteria provided, single submitter clinical testing

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