ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)

dbSNP: rs1558805781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000722877 SCV000854008 uncertain significance not provided 2018-09-16 no assertion criteria provided research
Laboratory of Medical Genetics, University of Torino RCV001352686 SCV001547479 pathogenic Warburg micro syndrome 1 2021-03-11 no assertion criteria provided research

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