ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.1194_1195del (p.Arg398fs)

dbSNP: rs727502810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000149873 SCV001142589 pathogenic Retinal dystrophy and obesity 2019-08-26 criteria provided, single submitter clinical testing
OMIM RCV000149873 SCV000196727 pathogenic Retinal dystrophy and obesity 2014-03-01 no assertion criteria provided literature only

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