ClinVar Miner

Submissions for variant NM_001128590.3(CYP21A2):c.868_870GAG[1] (p.Glu291del) (rs1582309414)

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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 RCV000850240 SCV000890141 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency no assertion criteria provided clinical testing NM_000500.9:c.961_963del was detected in trans with c.293-13C>G (pathogenic).

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