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 |
affects |
other |
total |
12
|
7
|
45
|
6
|
6
|
5
|
1
|
71
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
other |
total |
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
|
11
|
7
|
45
|
6
|
3
|
5
|
1
|
67
|
SLCO1B1
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
SLCO1B3, SLCO1B3-SLCO1B7
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
other |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
38
|
5
|
0 |
0 |
0 |
43
|
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University
|
7
|
0 |
0 |
1
|
6
|
0 |
0 |
14
|
Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine
|
2
|
2
|
3
|
0 |
0 |
0 |
0 |
7
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Mendelics
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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