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 |
119
|
33
|
1490
|
1172
|
79
|
2
|
2759
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
92
|
19
|
1241
|
911
|
36
|
0 |
2299
|
Ambry Genetics
|
0 |
0 |
615
|
444
|
27
|
0 |
1086
|
GeneDx
|
0 |
0 |
79
|
16
|
27
|
0 |
122
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
1
|
1
|
98
|
0 |
0 |
100
|
Baylor Genetics
|
0 |
0 |
56
|
0 |
0 |
0 |
56
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
17
|
28
|
4
|
0 |
50
|
Myriad Genetics, Inc.
|
38
|
6
|
0 |
1
|
0 |
0 |
45
|
Genomic Center, National Cancer Institute
|
5
|
4
|
11
|
0 |
0 |
0 |
20
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
5
|
0 |
0 |
9
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
5
|
3
|
0 |
9
|
Blueprint Genetics
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
3
|
3
|
0 |
6
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
2
|
3
|
0 |
5
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Oncology Research Center, Barretos Cancer Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Psychiatry, The University of Hong Kong
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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