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 |
78
|
23
|
816
|
655
|
357
|
1
|
1901
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
74
|
20
|
681
|
634
|
142
|
0 |
1551
|
GeneDx
|
0 |
0 |
20
|
0 |
253
|
0 |
273
|
Ambry Genetics
|
0 |
0 |
192
|
9
|
0 |
0 |
201
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
8
|
20
|
0 |
0 |
28
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
12
|
8
|
1
|
0 |
21
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
1
|
14
|
0 |
16
|
Preventiongenetics, part of Exact Sciences
|
0 |
3
|
6
|
0 |
6
|
0 |
15
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
12
|
2
|
0 |
0 |
15
|
Revvity Omics, Revvity Omics
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
OMIM
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
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
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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