ClinVar Miner

Submissions for variant NM_000054.7(AVPR2):c.738del (p.Arg247fs)

dbSNP: rs781942628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000011582 SCV005415662 pathogenic Diabetes insipidus, nephrogenic, X-linked criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4
OMIM RCV000011582 SCV000031814 pathogenic Diabetes insipidus, nephrogenic, X-linked 1992-09-17 no assertion criteria provided literature only

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