ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr)

dbSNP: rs2151875295
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001667861 SCV001890905 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter clinical testing

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