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 |
8
|
2
|
7
|
0 |
4
|
21
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
4
|
6
|
OMIM
|
5
|
0 |
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
2
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
1
|
1
|
0 |
0 |
2
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
1
|
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences
|
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
1
|
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