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 |
23
|
18
|
547
|
496
|
61
|
176
|
1023
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
10
|
1
|
349
|
451
|
38
|
0 |
849
|
Genome-Nilou Lab
|
3
|
4
|
152
|
34
|
28
|
0 |
221
|
Natera, Inc.
|
9
|
1
|
144
|
35
|
17
|
0 |
206
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
150
|
150
|
Illumina Laboratory Services, Illumina
|
6
|
0 |
94
|
4
|
16
|
0 |
120
|
Mendelics
|
4
|
1
|
91
|
0 |
2
|
0 |
98
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
9
|
4
|
2
|
1
|
10
|
0 |
26
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
0 |
0 |
15
|
5
|
0 |
0 |
20
|
OMIM
|
15
|
0 |
3
|
0 |
0 |
0 |
18
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
16
|
16
|
Medical Biology Lab, Gaziantep University
|
0 |
0 |
0 |
0 |
0 |
13
|
13
|
MGZ Medical Genetics Center
|
4
|
2
|
6
|
0 |
0 |
0 |
12
|
Counsyl
|
2
|
3
|
3
|
1
|
1
|
0 |
10
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
6
|
0 |
0 |
0 |
8
|
3billion
|
6
|
0 |
2
|
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
Myriad Genetics, Inc.
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Medical Genetics of Dicle University
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Atomic Energy Commission of Syria (AECS)
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Hadassah Hebrew University Medical Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Baylor Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Arcensus
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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