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 |
total |
|
24
|
10
|
246
|
221
|
41
|
511
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
9
|
3
|
178
|
207
|
28
|
425
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
52
|
8
|
4
|
65
|
|
Ambry Genetics
|
0 |
0 |
42
|
1
|
0 |
43
|
|
GeneDx
|
2
|
0 |
0 |
5
|
16
|
23
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
8
|
8
|
19
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
9
|
3
|
13
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
5
|
3
|
0 |
8
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
|
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
|
1
|
1
|
2
|
0 |
0 |
4
|
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
4
|
0 |
0 |
0 |
0 |
4
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
0 |
2
|
3
|
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
0 |
1
|
1
|
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
2
|
0 |
3
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Centre for Human Genetics, University of Kinshasa
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University
|
1
|
0 |
0 |
0 |
0 |
1
|
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