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 |
147
|
30
|
263
|
125
|
49
|
604
|
Gene and significance breakdown #
Total genes and gene combinations: 12
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
FOXC1
|
72
|
14
|
201
|
108
|
21
|
412
|
PITX2
|
52
|
11
|
50
|
10
|
27
|
145
|
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
|
ALPK1, ANK2, AP1AR, AP1AR-DT, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC112935973, LOC112935974, LOC112935975, LOC123477806, LOC123477807, LOC123477808, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC132089000, LOC132089001, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, NEUROG2, PITX2, TIFA, ZGRF1
|
0 |
1
|
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
|
ENPEP, PITX2
|
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
|
FOXC1, LOC129995600, LOC129995601
|
1
|
0 |
0 |
0 |
0 |
1
|
PRDM5
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
73
|
9
|
211
|
124
|
30
|
447
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
38
|
0 |
25
|
64
|
Human Developmental Genetics Laboratory, Medical College of Wisconsin
|
45
|
9
|
0 |
0 |
0 |
54
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
25
|
2
|
0 |
27
|
Genetics and Molecular Pathology, SA Pathology
|
20
|
1
|
5
|
0 |
0 |
26
|
OMIM
|
14
|
0 |
1
|
0 |
0 |
15
|
3billion
|
1
|
2
|
0 |
0 |
0 |
3
|
DBGen Ocular Genomics
|
0 |
2
|
1
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
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
|
Moosajee Lab, UCL Institute of Ophthalmology
|
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
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
|
Hunan Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital
|
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
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Ophthalmology, Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
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