ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) (rs77940364)

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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 RCV000145795 SCV000192932 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333743 SCV000429390 benign D-2-hydroxyglutaric aciduria 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000333743 SCV001731361 benign D-2-hydroxyglutaric aciduria 1 2020-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000677006 SCV001847978 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000333743 SCV001876512 benign D-2-hydroxyglutaric aciduria 1 2021-07-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000677006 SCV000802836 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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