ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.293-23A>T

gnomAD frequency: 0.01298  dbSNP: rs145731647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518744 SCV001727500 benign D-2-hydroxyglutaric aciduria 1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430708 SCV004149720 benign not provided 2022-11-01 criteria provided, single submitter clinical testing D2HGDH: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905263 SCV004731556 benign D2HGDH-related condition 2023-12-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV000145799 SCV000192936 likely benign not specified no assertion criteria provided clinical testing

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