ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.*1145del

gnomAD frequency: 0.00001  dbSNP: rs886046014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289735 SCV000354415 uncertain significance Martsolf syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344686 SCV000354416 uncertain significance Warburg micro syndrome 2016-06-14 criteria provided, single submitter clinical testing

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