ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.729A>G (p.Lys243=)

dbSNP: rs1596073596
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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 RCV003514431 SCV001051631 likely benign D-2-hydroxyglutaric aciduria 2 2017-12-22 criteria provided, single submitter clinical testing

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