ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) (rs149504235)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145790 SCV000192927 uncertain significance D-2-hydroxyglutaric aciduria 1 2014-07-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318883 SCV000429410 uncertain significance D-2-hydroxyglutaric aciduria 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499723 SCV000594302 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513008 SCV000609039 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV000513008 SCV001113711 benign not provided 2019-02-06 criteria provided, single submitter clinical testing

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