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 |
|
35
|
26
|
566
|
377
|
82
|
1003
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Invitae
|
18
|
11
|
374
|
275
|
38
|
716
|
|
GeneDx
|
2
|
9
|
39
|
104
|
58
|
212
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
169
|
15
|
17
|
201
|
|
Ambry Genetics
|
0 |
0 |
43
|
1
|
0 |
44
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
20
|
23
|
43
|
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
5
|
14
|
1
|
22
|
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
15
|
|
Athena Diagnostics Inc
|
0 |
0 |
3
|
2
|
5
|
10
|
|
Revvity Omics, Revvity
|
0 |
4
|
6
|
0 |
0 |
10
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
8
|
8
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
6
|
0 |
0 |
6
|
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
4
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
1
|
1
|
2
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
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