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 |
|
123
|
45
|
1189
|
967
|
362
|
47
|
2648
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
118
|
32
|
790
|
911
|
147
|
0 |
1998
|
|
Ambry Genetics
|
0 |
0 |
576
|
18
|
0 |
0 |
594
|
|
GeneDx
|
0 |
0 |
27
|
0 |
253
|
0 |
280
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
23
|
12
|
43
|
0 |
79
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
3
|
12
|
47
|
8
|
0 |
70
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
14
|
36
|
4
|
0 |
54
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
25
|
20
|
0 |
0 |
45
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
43
|
43
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
18
|
8
|
1
|
0 |
27
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
1
|
14
|
0 |
16
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
12
|
2
|
0 |
0 |
15
|
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
4
|
3
|
0 |
0 |
0 |
7
|
|
OMIM
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
2
|
0 |
1
|
0 |
0 |
3
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Clinical Pathology, School of Medicine, Fujita Health University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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