ClinVar Miner

Variants studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Included ClinVar conditions (1):
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
59 46 375 254 39 1 729

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MOCS1 58 46 363 249 36 1 708
DAAM2, MOCS1 0 0 12 3 3 0 18
GPHN 0 0 0 2 0 0 2
LOC129993881, MOCS2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 18 268 235 24 0 592
Illumina Laboratory Services, Illumina 0 0 87 11 27 0 125
Fulgent Genetics, Fulgent Genetics 4 10 69 4 1 0 88
Baylor Genetics 3 23 4 0 0 0 30
OMIM 8 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
Mendelics 0 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 2
3billion, Medical Genetics 0 0 0 2 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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