ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) (rs4675887)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
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.
Invitae RCV000274007 SCV001725290 benign D-2-hydroxyglutaric aciduria 1 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000428539 SCV001891593 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000428539 SCV000802835 benign not provided 2017-11-08 no assertion criteria provided clinical testing

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