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 |
41
|
8
|
271
|
53
|
49
|
2
|
414
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
140
|
31
|
39
|
0 |
210
|
Fulgent Genetics, Fulgent Genetics
|
8
|
2
|
104
|
25
|
6
|
0 |
145
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
8
|
2
|
6
|
1
|
0 |
0 |
17
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
14
|
1
|
2
|
0 |
0 |
0 |
17
|
Genome-Nilou Lab
|
0 |
0 |
5
|
0 |
12
|
0 |
17
|
Counsyl
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KTest Genetics, KTest
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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