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 |
70
|
21
|
122
|
44
|
42
|
293
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
FGFR2
|
10
|
2
|
71
|
31
|
37
|
150
|
TWIST1
|
46
|
11
|
37
|
10
|
5
|
106
|
LOC129998021, TWIST1
|
11
|
8
|
14
|
3
|
0 |
34
|
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1
|
1
|
0 |
0 |
0 |
0 |
1
|
FERD3L, TWIST1
|
1
|
0 |
0 |
0 |
0 |
1
|
FGFR3
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
42
|
11
|
49
|
11
|
5
|
118
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
47
|
15
|
37
|
100
|
Fulgent Genetics, Fulgent Genetics
|
9
|
2
|
27
|
17
|
1
|
56
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
11
|
Department of Medical Genetics, Oslo University Hospital
|
3
|
4
|
0 |
0 |
0 |
7
|
Klinisk genetik och genomik Research, Gothenburg University
|
2
|
2
|
0 |
0 |
0 |
4
|
3billion
|
3
|
0 |
0 |
0 |
0 |
3
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
0 |
1
|
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
1
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
0 |
1
|
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Skeletal Dysplasia Laboratory, Hospital Universitario La Paz
|
1
|
0 |
0 |
0 |
0 |
1
|
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