ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.1284C>T (p.Asn428=)

gnomAD frequency: 0.00002  dbSNP: rs191547948
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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 RCV002192283 SCV002346289 benign D-2-hydroxyglutaric aciduria 2 2024-11-05 criteria provided, single submitter clinical testing

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