ClinVar Miner

Submissions for variant NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)

gnomAD frequency: 0.00001  dbSNP: rs587777151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000087132 SCV000119993 pathogenic Warburg micro syndrome 3 2013-05-01 no assertion criteria provided literature only
GeneReviews RCV000087132 SCV000778364 not provided Warburg micro syndrome 3 no assertion provided literature only

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