Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV000758699 | SCV001438940 | likely pathogenic | Sulfite oxidase deficiency | criteria provided, single submitter | clinical testing | ||
Center for Genomic Medicine, |
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 | |
Gene |
RCV000758699 | SCV000887472 | not provided | Sulfite oxidase deficiency | no assertion provided | literature only | ||
Biochemical Molecular Genetic Laboratory, |
RCV000758699 | SCV001133178 | pathogenic | Sulfite oxidase deficiency | 2019-09-26 | no assertion criteria provided | clinical testing |