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 |
22
|
6
|
45
|
16
|
6
|
91
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
HINT1
|
22
|
6
|
45
|
16
|
6
|
91
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
12
|
3
|
44
|
15
|
5
|
79
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
1
|
1
|
3
|
Neuromuscular Group, Huashan Hospital, Fudan University
|
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
2
|
CMT Laboratory, Bogazici University
|
2
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity Omics
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Neurology, Second Xiangya Hospital of Central South University
|
0 |
1
|
0 |
0 |
0 |
1
|
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