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 |
|
49
|
41
|
200
|
36
|
40
|
11
|
348
|
Gene and significance breakdown #
Total genes and gene combinations: 14
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
4
|
1
|
158
|
16
|
40
|
0 |
219
|
|
Natera, Inc.
|
8
|
6
|
7
|
18
|
1
|
0 |
40
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
21
|
16
|
0 |
0 |
0 |
0 |
37
|
|
Baylor Genetics
|
6
|
0 |
10
|
0 |
0 |
0 |
16
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
1
|
6
|
4
|
0 |
0 |
15
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
|
Genome-Nilou Lab
|
2
|
0 |
5
|
0 |
2
|
0 |
9
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
0 |
2
|
0 |
0 |
0 |
8
|
|
Mendelics
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
|
3billion, Medical Genetics
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
MGZ Medical Genetics Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Human Genetics Unit, University Of Colombo
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Medical Genetics Laboratory, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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