ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.1011T>G (p.Pro337=)

gnomAD frequency: 0.00001  dbSNP: rs1222450557
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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 RCV002164659 SCV002338464 likely benign D-2-hydroxyglutaric aciduria 2 2022-07-03 criteria provided, single submitter clinical testing

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