ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)

dbSNP: rs386134262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030343 SCV000053010 likely pathogenic Congenital adrenal hypoplasia, X-linked 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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