ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.993G>A (p.Thr331=)

gnomAD frequency: 0.01104  dbSNP: rs61737002
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146097 SCV000193314 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000974678 SCV001122516 benign D-2-hydroxyglutaric aciduria 2 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV002285270 SCV002576216 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV000974678 SCV002806416 likely benign D-2-hydroxyglutaric aciduria 2 2021-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002285270 SCV005213994 likely benign not provided criteria provided, single submitter not provided

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