ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.1167A>G (p.Gln389=)

gnomAD frequency: 0.00001  dbSNP: rs749134763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119909 SCV002401989 likely benign D-2-hydroxyglutaric aciduria 2 2024-02-24 criteria provided, single submitter clinical testing

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