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 |
|
38
|
77
|
98
|
16
|
21
|
3
|
210
|
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 |
|
Genome-Nilou Lab
|
22
|
9
|
35
|
7
|
9
|
0 |
82
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
36
|
4
|
14
|
0 |
54
|
|
Counsyl
|
2
|
27
|
12
|
1
|
0 |
0 |
42
|
|
Natera, Inc.
|
0 |
0 |
30
|
2
|
9
|
0 |
41
|
|
Baylor Genetics
|
13
|
21
|
4
|
0 |
0 |
0 |
38
|
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
1
|
22
|
0 |
0 |
0 |
0 |
23
|
|
Revvity Omics, Revvity
|
4
|
2
|
7
|
0 |
0 |
0 |
13
|
|
Fulgent Genetics, Fulgent Genetics
|
3
|
1
|
7
|
0 |
0 |
0 |
11
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
Genetic Services Laboratory, University of Chicago
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
1
|
0 |
1
|
1
|
0 |
3
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Myriad Genetics, Inc.
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Ege University Pediatric Genetics, Ege University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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