ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.564_567dup (p.Gly190fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796439 SCV005418895 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting

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