ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)

gnomAD frequency: 0.00001  dbSNP: rs745852247
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Total submissions: 2
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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 RCV002266284 SCV002548038 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488664 SCV002792146 uncertain significance Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2021-07-01 criteria provided, single submitter clinical testing

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