ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.520del (p.Asp174fs)

dbSNP: rs1565798380
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000758699 SCV001438940 likely pathogenic Sulfite oxidase deficiency criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000758699 SCV004805435 likely pathogenic Sulfite oxidase deficiency 2024-03-25 criteria provided, single submitter research
OMIM RCV000758699 SCV000024194 pathogenic Sulfite oxidase deficiency 2005-07-15 no assertion criteria provided literature only
GeneReviews RCV000758699 SCV000887472 not provided Sulfite oxidase deficiency no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000758699 SCV001133178 pathogenic Sulfite oxidase deficiency 2019-09-26 no assertion criteria provided clinical testing

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