ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)

dbSNP: rs1553444644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625952 SCV000746549 pathogenic Warburg micro syndrome 1 2017-12-03 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000625952 SCV002579706 likely pathogenic Warburg micro syndrome 1 2021-12-03 criteria provided, single submitter clinical testing

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