ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)

gnomAD frequency: 0.00035  dbSNP: rs142816010
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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 RCV000192325 SCV000247598 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000439729 SCV000510743 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001084682 SCV001131907 likely benign D-2-hydroxyglutaric aciduria 2 2023-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000439729 SCV001985204 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV002467652 SCV002764248 uncertain significance Enchondromatosis criteria provided, single submitter research

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