ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.254del (p.Lys85fs) (rs1582300748)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatric Endocrinology,Cukurova University Medical Faculty RCV000850241 SCV000890143 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency no assertion criteria provided clinical testing NM_000500.9:c.254del was detected in trans with p.Ile173Asn (pathogenic).

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