ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del)

dbSNP: 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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