ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)

dbSNP: rs1555972957
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583156 SCV000692288 pathogenic Congenital adrenal hypoplasia, X-linked 2011-11-28 no assertion criteria provided clinical testing

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