ClinVar Miner

Submissions for variant NM_152783.4(D2HGDH):c.43C>G (p.Arg15Gly) (rs4675887)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428539 SCV000511180 likely benign not provided 2016-06-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000145801 SCV000192938 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274007 SCV000429389 benign D-2-hydroxyglutaric aciduria 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000428539 SCV000802835 benign not provided 2017-11-08 no assertion criteria provided clinical testing

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