ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe)

dbSNP: rs1565799921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761535 SCV000891674 pathogenic Sulfite oxidase deficiency 2017-12-30 criteria provided, single submitter curation
Mendelics RCV000761535 SCV001138757 likely pathogenic Sulfite oxidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001759448 SCV001988225 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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