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 |
risk factor |
total |
27
|
9
|
1421
|
1668
|
237
|
6
|
3240
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Ambry Genetics
|
1
|
0 |
1395
|
1531
|
0 |
0 |
2927
|
Invitae
|
24
|
6
|
1
|
117
|
179
|
0 |
327
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
9
|
132
|
53
|
0 |
194
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
13
|
7
|
0 |
21
|
GeneDx
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
10
|
3
|
0 |
13
|
Revvity Omics, Revvity Omics
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
8
|
0 |
0 |
9
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
2
|
0 |
5
|
Preventiongenetics, part of Exact Sciences
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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