ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)

dbSNP: rs2066119604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253211 SCV001428816 likely pathogenic Neurohypophyseal diabetes insipidus 2019-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001253211 SCV002816537 pathogenic Neurohypophyseal diabetes insipidus 2021-12-28 criteria provided, single submitter clinical testing
OMIM RCV001253211 SCV000033236 pathogenic Neurohypophyseal diabetes insipidus 2002-02-01 no assertion criteria provided literature only

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