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 |
|
11
|
6
|
134
|
22
|
51
|
8
|
214
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
FGD4
|
11
|
6
|
134
|
22
|
51
|
8
|
214
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
103
|
15
|
46
|
0 |
164
|
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
17
|
0 |
0 |
0 |
17
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
7
|
4
|
0 |
15
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
5
|
1
|
0 |
0 |
7
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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