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 |
not provided |
total |
|
9
|
3
|
97
|
80
|
76
|
11
|
264
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
78
|
76
|
74
|
0 |
228
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
2
|
0 |
0 |
6
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
0 |
2
|
0 |
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
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