ClinVar Miner

Submissions for variant NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)

gnomAD frequency: 0.02206  dbSNP: rs61733129
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000116874 SCV000307650 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394797 SCV000398786 benign Miller syndrome 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.
GeneDx RCV001536204 SCV001752928 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV001536204 SCV002350567 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116874 SCV000150959 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001536204 SCV001800700 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001536204 SCV001928143 likely benign not provided no assertion criteria provided clinical testing

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