ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.899+1G>A

gnomAD frequency: 0.00002  dbSNP: rs587777152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520187 SCV000617649 pathogenic not provided 2021-09-13 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32740904, 23420520, 29450879)
CeGaT Center for Human Genetics Tuebingen RCV000520187 SCV001152405 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing RAB3GAP1: PVS1:Strong, PM2, PM3, PS4:Moderate
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000087133 SCV004801226 pathogenic Warburg micro syndrome 1 2024-03-14 criteria provided, single submitter research
OMIM RCV000087133 SCV000119994 pathogenic Warburg micro syndrome 1 2013-05-01 no assertion criteria provided literature only
GeneReviews RCV000087133 SCV000778355 not provided Warburg micro syndrome 1 no assertion provided literature only

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