ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.1146G>A (p.Arg382=)

gnomAD frequency: 0.00001  dbSNP: rs1168665757
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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 RCV001425262 SCV001627887 likely benign D-2-hydroxyglutaric aciduria 2 2018-06-30 criteria provided, single submitter clinical testing

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