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 |
|
25
|
16
|
146
|
135
|
20
|
3
|
333
|
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 |
|
Invitae
|
19
|
8
|
109
|
128
|
5
|
0 |
269
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
34
|
7
|
19
|
0 |
61
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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