ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.276T>C (p.Thr92=)

gnomAD frequency: 0.00013  dbSNP: rs774212594
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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 RCV000902965 SCV001047411 likely benign D-2-hydroxyglutaric aciduria 2 2025-01-31 criteria provided, single submitter clinical testing

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