ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)

dbSNP: rs773115
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118423 SCV000304397 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000363638 SCV000380316 benign Sulfite oxidase 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.
Invitae RCV000363638 SCV001724465 benign Sulfite oxidase deficiency 2021-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000118423 SCV002051339 benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000363638 SCV002062299 benign Sulfite oxidase deficiency 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118423 SCV000152828 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000363638 SCV000733183 benign Sulfite oxidase deficiency no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000363638 SCV000745691 benign Sulfite oxidase deficiency 2017-01-23 no assertion criteria provided clinical testing

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