ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)

dbSNP: rs1691647986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences RCV001352678 SCV001536151 pathogenic Warburg micro syndrome 1 2021-02-01 no assertion criteria provided clinical testing

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