ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val)

dbSNP: rs2151876633
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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 RCV001667853 SCV001890902 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency criteria provided, single submitter clinical testing

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