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

gnomAD frequency: 0.00845  dbSNP: rs4675887

Total submissions: 6

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 Laboratory Services, 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	2024-01-30	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