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 |
41
|
29
|
322
|
211
|
100
|
1
|
629
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
20
|
8
|
151
|
147
|
34
|
0 |
360
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
114
|
20
|
30
|
0 |
165
|
GeneDx
|
0 |
4
|
36
|
41
|
54
|
0 |
135
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
1
|
34
|
8
|
0 |
45
|
Eurofins Ntd Llc (ga)
|
2
|
1
|
22
|
3
|
6
|
0 |
34
|
Ambry Genetics
|
0 |
2
|
26
|
1
|
0 |
0 |
29
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
3
|
12
|
4
|
9
|
0 |
28
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
7
|
2
|
4
|
0 |
13
|
Revvity Omics, Revvity
|
2
|
1
|
6
|
0 |
0 |
0 |
9
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
9
|
0 |
0 |
0 |
0 |
9
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
5
|
1
|
0 |
0 |
9
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
1
|
0 |
6
|
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
6
|
0 |
9
|
Baylor Genetics
|
3
|
0 |
5
|
0 |
0 |
0 |
8
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
6
|
1
|
0 |
0 |
7
|
Dan Cohn Lab, University Of California Los Angeles
|
4
|
0 |
2
|
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
SIB Swiss Institute of Bioinformatics
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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