ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.939A>G (p.Gly313=)

gnomAD frequency: 0.00280  dbSNP: rs16943901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146096 SCV000193313 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967387 SCV001114769 benign D-2-hydroxyglutaric aciduria 2 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001596976 SCV001830984 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975150 SCV004798265 benign IDH2-related disorder 2019-05-15 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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