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 |
90
|
18
|
212
|
115
|
22
|
452
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
FOXC1
|
69
|
14
|
201
|
108
|
21
|
409
|
FOXC1, LOC129995601
|
16
|
4
|
11
|
7
|
1
|
38
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
1
|
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SLX9, SPATC1L, YBEY
|
1
|
0 |
0 |
0 |
0 |
1
|
BPHL, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, PSMG4, RIPK1, SERPINB1, SERPINB6, SERPINB9, SLC22A23, TUBB2A, TUBB2B, WRNIP1
|
1
|
0 |
0 |
0 |
0 |
1
|
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B
|
1
|
0 |
0 |
0 |
0 |
1
|
FOXC1, FOXF2, FOXQ1, GMDS
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
51
|
4
|
202
|
114
|
22
|
393
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
25
|
2
|
0 |
27
|
Human Developmental Genetics Laboratory, Medical College of Wisconsin
|
20
|
5
|
0 |
0 |
0 |
25
|
Genetics and Molecular Pathology, SA Pathology
|
13
|
1
|
3
|
0 |
0 |
17
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
3billion
|
1
|
2
|
0 |
0 |
0 |
3
|
DBGen Ocular Genomics
|
0 |
2
|
1
|
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
1
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
0 |
1
|
Shanghai First Maternity and Infant Hospital, Tongji University
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
1
|
Biocant - Biotechnology Innovation Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnosis Center for Deafness
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Ophthalmology, Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
1
|
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