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 |
119
|
95
|
662
|
839
|
137
|
3
|
1737
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ATP7A
|
118
|
95
|
657
|
837
|
135
|
3
|
1728
|
ATP7A, PGK1
|
0 |
0 |
3
|
1
|
1
|
0 |
4
|
ATP7A, PGAM4
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
ATP7A, ATRX, COX7B, MAGT1, PGAM4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATP7A, COX7B, MAGT1, PGAM4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EIF2AK3, LOC101928371
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
47
|
12
|
389
|
819
|
135
|
0 |
1402
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
211
|
0 |
0 |
0 |
211
|
Natera, Inc.
|
4
|
0 |
69
|
35
|
11
|
0 |
119
|
Genetic Services Laboratory, University of Chicago
|
71
|
14
|
0 |
0 |
0 |
0 |
85
|
Myriad Genetics, Inc.
|
0 |
61
|
0 |
0 |
0 |
0 |
61
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
4
|
2
|
0 |
10
|
Baylor Genetics
|
2
|
0 |
7
|
0 |
0 |
0 |
9
|
Mendelics
|
1
|
2
|
1
|
1
|
3
|
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
4
|
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
4
|
0 |
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
2
|
0 |
2
|
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Section on Translational Neuroscience, Molecular Medicine Program; NICHD; National Institutes of Health
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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