ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.1041-18A>C

gnomAD frequency: 0.04963  dbSNP: rs73098579
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127679 SCV000171258 benign not specified 2014-04-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001795241 SCV002033394 benign Martsolf syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795242 SCV002033396 benign Warburg micro syndrome 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV002055765 SCV002481549 benign Martsolf syndrome; Warburg micro syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127679 SCV001959513 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000127679 SCV001976149 benign not specified no assertion criteria provided clinical testing

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