ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) (rs1565799921)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761535 SCV000891674 pathogenic Isolated sulfite oxidase deficiency 2017-12-30 criteria provided, single submitter curation
Mendelics RCV000761535 SCV001138757 likely pathogenic Isolated sulfite oxidase deficiency 2019-05-28 criteria provided, single submitter clinical testing

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