ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.228C>T (p.Gly76=)

gnomAD frequency: 0.00001  dbSNP: rs771597564
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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 RCV001432314 SCV001635079 likely benign D-2-hydroxyglutaric aciduria 1 2018-11-06 criteria provided, single submitter clinical testing

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