ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) (rs59190330)

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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 RCV000192933 SCV000248640 uncertain significance not specified 2014-12-22 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000192933 SCV000297233 benign not specified 2015-11-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192933 SCV000339405 likely benign not specified 2016-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000192933 SCV000565456 likely benign not specified 2018-02-28 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.
Invitae RCV000638451 SCV000759974 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing

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