ClinVar Miner

Variants studied for Sulfite oxidase deficiency

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
63 16 199 181 13 7 447

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SUOX 63 16 199 181 13 7 447

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 4 166 175 10 0 406
Illumina Laboratory Services, Illumina 0 0 37 7 5 0 49
OMIM 6 0 0 0 0 0 6
Mendelics 0 5 0 1 0 0 6
GeneReviews 1 0 0 0 0 5 6
Fulgent Genetics, Fulgent Genetics 0 1 2 1 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.