ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)

gnomAD frequency: 0.00027  dbSNP: rs201921601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145789 SCV000192926 uncertain significance D-2-hydroxyglutaric aciduria 1 2014-04-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000145789 SCV001519859 uncertain significance D-2-hydroxyglutaric aciduria 1 2019-03-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV000145789 SCV002548737 uncertain significance D-2-hydroxyglutaric aciduria 1 2021-07-16 criteria provided, single submitter clinical testing

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