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 |
total |
31
|
13
|
146
|
153
|
39
|
377
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
SLC9A6
|
30
|
13
|
125
|
140
|
38
|
342
|
LOC130068746, SLC9A6
|
0 |
0 |
12
|
4
|
1
|
17
|
LOC130068747, SLC9A6
|
0 |
0 |
8
|
9
|
0 |
16
|
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3
|
1
|
0 |
0 |
0 |
0 |
1
|
FHL1, SLC9A6
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
14
|
5
|
133
|
151
|
38
|
341
|
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
|
3
|
0 |
4
|
7
|
4
|
18
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
2
|
1
|
3
|
0 |
0 |
6
|
Revvity Omics, Revvity
|
1
|
0 |
5
|
0 |
0 |
6
|
Mendelics
|
0 |
1
|
0 |
0 |
2
|
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
1
|
2
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
2
|
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
2
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Ulm
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
1
|
Pediatric Neurology, Northwest Women’s and Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
1
|
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University
|
0 |
0 |
1
|
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
1
|
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