ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.285G>C (p.Thr95=)

dbSNP: rs1299044212
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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 RCV003877188 SCV004684599 likely benign D-2-hydroxyglutaric aciduria 1 2023-04-13 criteria provided, single submitter clinical testing

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