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 |
32
|
13
|
279
|
214
|
64
|
1
|
566
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
21
|
6
|
182
|
169
|
21
|
0 |
399
|
GeneDx
|
0 |
0 |
15
|
33
|
37
|
0 |
85
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
47
|
10
|
21
|
0 |
78
|
Ambry Genetics
|
2
|
2
|
53
|
19
|
0 |
0 |
76
|
Molecular Genetics Laboratory, London Health Sciences Centre
|
0 |
0 |
12
|
17
|
8
|
0 |
37
|
Athena Diagnostics Inc
|
0 |
0 |
10
|
1
|
9
|
0 |
20
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
7
|
2
|
6
|
0 |
15
|
Inherited Neuropathy Consortium
|
0 |
0 |
12
|
0 |
3
|
0 |
15
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
5
|
5
|
0 |
10
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
5
|
3
|
2
|
0 |
10
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
4
|
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
Cirak Lab, University Hospital Cologne
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Unit, University Of Colombo
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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