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 |
affects |
other |
not provided |
total |
196
|
152
|
363
|
456
|
25
|
36
|
2
|
1
|
1084
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
other |
not provided |
total |
HEXA
|
193
|
151
|
361
|
456
|
25
|
35
|
2
|
1
|
1079
|
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GM2A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HEXA, LOC130057475
|
1
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SETX
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
other |
not provided |
total |
Invitae
|
166
|
30
|
293
|
434
|
14
|
0 |
2
|
0 |
939
|
Counsyl
|
4
|
55
|
60
|
23
|
0 |
0 |
0 |
0 |
142
|
Natera, Inc.
|
35
|
10
|
48
|
9
|
12
|
0 |
0 |
0 |
114
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
45
|
23
|
0 |
0 |
0 |
0 |
0 |
0 |
68
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
36
|
0 |
0 |
41
|
Myriad Genetics, Inc.
|
8
|
30
|
2
|
0 |
0 |
0 |
0 |
0 |
40
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
29
|
9
|
1
|
0 |
0 |
0 |
0 |
0 |
39
|
Illumina Laboratory Services, Illumina
|
3
|
1
|
24
|
3
|
4
|
0 |
0 |
0 |
35
|
Fulgent Genetics, Fulgent Genetics
|
9
|
5
|
8
|
1
|
0 |
0 |
0 |
0 |
23
|
Revvity Omics, Revvity
|
10
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
18
|
Genome-Nilou Lab
|
0 |
0 |
3
|
3
|
8
|
0 |
0 |
0 |
14
|
Baylor Genetics
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
4
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
7
|
Mendelics
|
3
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
6
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
3billion
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
2
|
Sema4, Sema4
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GeneID Lab - Advanced Molecular Diagnostics
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - GM1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Istanbul Faculty of Medicine, Istanbul University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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