ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser)

gnomAD frequency: 0.00310  dbSNP: rs144455066
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194946 SCV000248631 benign not specified 2019-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000951669 SCV000529464 benign not provided 2019-11-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000194946 SCV000614845 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951669 SCV001098089 benign not provided 2024-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530140 SCV004730777 benign RAB3GAP1-related disorder 2019-05-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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