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 |
total |
|
87
|
47
|
60
|
6
|
17
|
194
|
Gene and significance breakdown #
Total genes and gene combinations: 11
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
TYMP
|
42
|
32
|
31
|
0 |
6
|
102
|
|
LOC130067862, SCO2, TYMP
|
30
|
10
|
12
|
1
|
6
|
51
|
|
LOC130067862, TYMP
|
6
|
2
|
4
|
0 |
0 |
10
|
|
LOC130067864, TYMP
|
7
|
2
|
2
|
0 |
1
|
8
|
|
SCO2, TYMP
|
0 |
0 |
5
|
2
|
0 |
7
|
|
NCAPH2, SCO2, TYMP
|
0 |
0 |
1
|
3
|
2
|
6
|
|
LOC130067866, TYMP
|
0 |
0 |
4
|
0 |
0 |
4
|
|
LOC130067861, SCO2, TYMP
|
0 |
0 |
0 |
0 |
2
|
2
|
|
POLG
|
1
|
1
|
0 |
0 |
0 |
2
|
|
MT-TK
|
1
|
0 |
0 |
0 |
0 |
1
|
|
POLG, POLGARF
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
GeneReviews
|
72
|
0 |
0 |
0 |
5
|
77
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
43
|
6
|
10
|
60
|
|
Baylor Genetics
|
12
|
35
|
3
|
0 |
0 |
50
|
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
15
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
3
|
6
|
0 |
0 |
12
|
|
Revvity Omics, Revvity
|
2
|
5
|
1
|
0 |
0 |
8
|
|
Counsyl
|
1
|
2
|
3
|
1
|
1
|
8
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
5
|
0 |
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
|
Department of Pathophysiology and Transplantation, University of Milan
|
4
|
1
|
0 |
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
3
|
0 |
0 |
4
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
1
|
0 |
0 |
3
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
2
|
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
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 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
0 |
1
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
1
|
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