ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1140+8G>A

gnomAD frequency: 0.00073  dbSNP: rs369135156
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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 RCV000193809 SCV000247147 likely benign not specified 2017-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001079053 SCV000429407 uncertain significance D-2-hydroxyglutaric aciduria 1 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000488169 SCV000575307 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Invitae RCV001079053 SCV001054213 likely benign D-2-hydroxyglutaric aciduria 1 2021-11-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000488169 SCV000802844 uncertain significance not provided 2016-02-24 no assertion criteria provided clinical testing

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