ClinVar Miner

Submissions for variant NM_001172435.2(RAB3GAP1):c.1039C>T (p.Arg347Ter) (rs532964185)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000656360 SCV000891550 pathogenic Warburg micro syndrome 1 2017-12-30 criteria provided, single submitter curation
GeneReviews RCV000656360 SCV000778356 pathogenic Warburg micro syndrome 1 2017-10-31 no assertion criteria provided literature only

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