ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val)

gnomAD frequency: 0.00602  dbSNP: rs116775947
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118099 SCV000152431 benign not specified 2015-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000118099 SCV000514334 benign not specified 2016-09-01 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.
Invitae RCV000877840 SCV001020638 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132408 SCV001292067 benign Warburg micro syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics RCV000118099 SCV001476803 benign not specified 2020-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542849 SCV004795353 benign RAB3GAP1-related disorder 2019-07-15 criteria provided, single submitter 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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118099 SCV001957806 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000877840 SCV001970128 likely benign not provided no assertion criteria provided clinical testing

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