ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.292+28T>G

gnomAD frequency: 0.74780  dbSNP: rs62191977
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001610444 SCV001841831 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657833 SCV001876513 benign D-2-hydroxyglutaric aciduria 1 2021-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145796 SCV000192933 likely benign not specified no assertion criteria provided clinical testing

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