ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) (rs1060499835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000462560 SCV000538202 likely pathogenic Congenital adrenal hypoplasia, X-linked 2014-08-08 no assertion criteria provided clinical testing

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