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 |
93
|
46
|
515
|
623
|
116
|
1355
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
FGFR1
|
31
|
19
|
198
|
249
|
34
|
518
|
MEGF8
|
13
|
10
|
218
|
213
|
66
|
517
|
RAB23
|
19
|
8
|
40
|
132
|
9
|
189
|
FGFR2
|
29
|
9
|
28
|
21
|
1
|
85
|
BAG2, RAB23
|
0 |
0 |
27
|
5
|
6
|
38
|
LOC130064579, MEGF8
|
0 |
0 |
2
|
1
|
0 |
3
|
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2
|
1
|
0 |
1
|
0 |
0 |
2
|
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B
|
0 |
0 |
1
|
0 |
0 |
1
|
FGFR1, LOC102723716
|
0 |
0 |
0 |
1
|
0 |
1
|
MEGF8, MIR8077
|
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
53
|
23
|
399
|
582
|
105
|
1162
|
Fulgent Genetics, Fulgent Genetics
|
11
|
7
|
68
|
43
|
3
|
132
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
53
|
13
|
7
|
73
|
OMIM
|
22
|
0 |
0 |
0 |
0 |
22
|
Natera, Inc.
|
2
|
0 |
5
|
10
|
3
|
20
|
Baylor Genetics
|
3
|
0 |
13
|
0 |
0 |
16
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
12
|
4
|
0 |
0 |
0 |
16
|
Genome-Nilou Lab
|
0 |
1
|
0 |
2
|
9
|
12
|
Revvity Omics, Revvity
|
1
|
0 |
6
|
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
5
|
0 |
0 |
0 |
6
|
3billion
|
4
|
0 |
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
2
|
0 |
1
|
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
2
|
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
0 |
0 |
0 |
3
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
2
|
1
|
0 |
0 |
0 |
3
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
2
|
0 |
0 |
2
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
0 |
2
|
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
2
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
Database of Curated Mutations (DoCM)
|
0 |
1
|
0 |
0 |
0 |
1
|
Medical Molecular Genetics Department, National Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Unit, University Of Colombo
|
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre
|
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
NYU Undiagnosed Diseases Program, NYU School of Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University
|
1
|
0 |
0 |
0 |
0 |
1
|
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