ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter)

dbSNP: rs1573585099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790401 SCV000925639 pathogenic Warburg micro syndrome 1 2019-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091553 SCV001247677 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing

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