ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.207+5T>C

dbSNP: rs1901036129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196755 SCV001367388 uncertain significance D-2-hydroxyglutaric aciduria 2 2019-10-15 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.

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