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 |
126
|
95
|
160
|
374
|
22
|
1
|
708
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
HEXB
|
122
|
95
|
154
|
372
|
21
|
1
|
696
|
GFM2, HEXB
|
1
|
0 |
5
|
2
|
1
|
0 |
8
|
HEXB, LOC129994060, LOC129994061, LOC129994062
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
115
|
24
|
88
|
370
|
17
|
0 |
614
|
Counsyl
|
3
|
29
|
27
|
1
|
0 |
0 |
60
|
Natera, Inc.
|
7
|
5
|
25
|
5
|
13
|
0 |
55
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
14
|
23
|
0 |
0 |
0 |
0 |
37
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
21
|
5
|
8
|
0 |
36
|
Myriad Genetics, Inc.
|
1
|
25
|
0 |
0 |
0 |
0 |
26
|
Fulgent Genetics, Fulgent Genetics
|
11
|
2
|
2
|
1
|
1
|
0 |
17
|
Baylor Genetics
|
7
|
0 |
3
|
0 |
0 |
0 |
10
|
Revvity Omics, Revvity
|
5
|
2
|
3
|
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
1
|
1
|
0 |
8
|
0 |
10
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
Centogene AG - the Rare Disease Company
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
1
|
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
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - GM1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
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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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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