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 |
7
|
9
|
20
|
1
|
0 |
33
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
MBOAT7
|
7
|
9
|
20
|
0 |
32
|
MBOAT7, TSEN34
|
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
Baylor Genetics
|
0 |
0 |
12
|
0 |
12
|
OMIM
|
5
|
0 |
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
3
|
0 |
3
|
3billion
|
2
|
1
|
0 |
0 |
3
|
Revvity Omics, Revvity
|
0 |
1
|
1
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
2
|
Medical Genetics Laboratory, Tarbiat Modares University
|
0 |
2
|
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
2
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
2
|
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
1
|
Department of Laboratory Medicine and Genetics, Samsung Medical Center
|
0 |
1
|
0 |
0 |
1
|
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