ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.490+40T>C

gnomAD frequency: 0.27008  dbSNP: rs78147778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618296 SCV001843846 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657834 SCV001876515 benign D-2-hydroxyglutaric aciduria 1 2021-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145802 SCV000192939 likely benign not specified no assertion criteria provided clinical testing

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