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 |
|
27
|
18
|
245
|
137
|
21
|
1
|
437
|
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 |
|
KLHL40
|
27
|
18
|
245
|
137
|
21
|
1
|
437
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
21
|
6
|
235
|
137
|
21
|
0 |
420
|
|
Revvity Omics, Revvity
|
1
|
0 |
8
|
1
|
0 |
0 |
10
|
|
Baylor Genetics
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
3billion
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Al Jawhara Center for Molecular Medicine, Arabian Gulf University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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