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 |
82
|
21
|
201
|
74
|
96
|
462
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
FGFR2
|
32
|
8
|
49
|
15
|
37
|
136
|
MEGF8
|
6
|
1
|
61
|
29
|
33
|
130
|
TWIST1
|
28
|
8
|
16
|
5
|
3
|
59
|
RAB23
|
9
|
0 |
31
|
12
|
4
|
50
|
FGFR1
|
5
|
4
|
17
|
8
|
13
|
47
|
BAG2, RAB23
|
0 |
0 |
27
|
5
|
6
|
38
|
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
|
FGFR3
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
28
|
6
|
92
|
49
|
51
|
226
|
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
98
|
24
|
44
|
166
|
OMIM
|
39
|
0 |
0 |
0 |
0 |
39
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
|
16
|
5
|
0 |
0 |
0 |
21
|
Fulgent Genetics,Fulgent Genetics
|
8
|
2
|
3
|
0 |
0 |
13
|
Department of Medical Genetics, Oslo University Hospital
|
6
|
4
|
0 |
0 |
0 |
10
|
Natera, Inc.
|
2
|
0 |
3
|
3
|
1
|
9
|
Baylor Genetics
|
3
|
0 |
3
|
0 |
0 |
6
|
GeneReviews
|
4
|
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics,Johns Hopkins University
|
3
|
0 |
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System
|
0 |
0 |
2
|
0 |
0 |
2
|
Klinisk genetik och genomik Research,Gothenburg University
|
1
|
1
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory,University of Chicago
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven
|
1
|
0 |
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
1
|
0 |
0 |
0 |
0 |
1
|
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília
|
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
1
|
Database of Curated Mutations (DoCM)
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
1
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program,Stanford Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
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