ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.718-14T>C

gnomAD frequency: 0.05854  dbSNP: rs55722856
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079087 SCV000110956 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079087 SCV000304705 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374672 SCV000482295 benign Ornithine carbamoyltransferase deficiency 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000374672 SCV001158894 benign Ornithine carbamoyltransferase deficiency 2019-04-12 criteria provided, single submitter clinical testing
Invitae RCV000374672 SCV001726704 benign Ornithine carbamoyltransferase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001650901 SCV001871751 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000374672 SCV004357052 benign Ornithine carbamoyltransferase deficiency 2022-04-28 criteria provided, single submitter clinical testing

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