ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.1302C>G (p.Thr434=)

gnomAD frequency: 0.00323  dbSNP: rs150574164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974773 SCV001122636 benign D-2-hydroxyglutaric aciduria 2 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392713 SCV004130892 benign not provided 2024-02-01 criteria provided, single submitter clinical testing IDH2: BS1, BS2

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