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 |
not provided |
total |
404
|
313
|
1531
|
296
|
280
|
3
|
2570
|
Gene and significance breakdown #
Total genes and gene combinations: 43
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BBS10
|
62
|
74
|
137
|
35
|
17
|
0 |
282
|
BBS2
|
42
|
56
|
124
|
33
|
23
|
0 |
237
|
BBS9
|
28
|
5
|
130
|
32
|
40
|
0 |
214
|
BBS12
|
35
|
30
|
112
|
31
|
29
|
0 |
201
|
ASTN2, TRIM32
|
13
|
2
|
155
|
19
|
9
|
0 |
190
|
BBS1, ZDHHC24
|
33
|
30
|
95
|
23
|
14
|
1
|
176
|
CEP290
|
12
|
3
|
115
|
6
|
19
|
0 |
155
|
BBS4
|
27
|
13
|
75
|
15
|
28
|
0 |
146
|
WDPCP
|
5
|
3
|
108
|
22
|
15
|
0 |
138
|
MKKS
|
23
|
3
|
82
|
10
|
18
|
0 |
129
|
BBS7
|
22
|
10
|
84
|
6
|
15
|
0 |
128
|
SDCCAG8
|
11
|
7
|
74
|
16
|
11
|
0 |
110
|
MKS1
|
5
|
23
|
68
|
8
|
8
|
0 |
105
|
BBS1
|
31
|
30
|
40
|
13
|
4
|
1
|
104
|
TTC8
|
4
|
2
|
63
|
14
|
12
|
0 |
84
|
BBS5
|
18
|
7
|
16
|
5
|
10
|
0 |
56
|
ARL6
|
12
|
3
|
26
|
6
|
4
|
0 |
50
|
AKT3, SDCCAG8
|
0 |
0 |
8
|
0 |
1
|
0 |
8
|
C12orf29, CEP290
|
0 |
0 |
7
|
1
|
0 |
0 |
8
|
TMEM67
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
BBS4, HIGD2B
|
0 |
0 |
2
|
0 |
3
|
0 |
5
|
C8orf37
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
LZTFL1
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
BBIP1
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
IFT172
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
IFT74
|
2
|
1
|
0 |
0 |
0 |
1
|
3
|
IFT27, LOC105373021
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
PNPLA6
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALMS1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARL6, CRYBG3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BBS1, DPP3, ZDHHC24
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BBS9, RP9
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CCDC28B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CEP19
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EML5, PTPN21, SPATA7, TTC8, ZC3H14
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GLI1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HTR2B, PSMD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IFT27
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNAB2, NPHP4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NPHP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PDE11A
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
TRAPPC3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
194
|
40
|
673
|
191
|
155
|
0 |
1253
|
Illumina Clinical Services Laboratory,Illumina
|
5
|
2
|
760
|
79
|
164
|
0 |
1010
|
Counsyl
|
22
|
176
|
104
|
9
|
0 |
0 |
311
|
Natera, Inc.
|
21
|
3
|
80
|
23
|
45
|
0 |
172
|
OMIM
|
86
|
0 |
0 |
0 |
0 |
0 |
86
|
Fulgent Genetics,Fulgent Genetics
|
23
|
5
|
26
|
0 |
0 |
0 |
54
|
Laboratory of Medical Genetics, INSERM
|
50
|
0 |
0 |
0 |
0 |
0 |
50
|
Integrated Genetics/Laboratory Corporation of America
|
27
|
14
|
0 |
1
|
1
|
0 |
43
|
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
|
1
|
1
|
1
|
9
|
27
|
0 |
39
|
Genome Diagnostics Laboratory,University Medical Center Utrecht
|
3
|
0 |
0 |
3
|
24
|
0 |
30
|
GeneReviews
|
12
|
0 |
0 |
0 |
16
|
0 |
28
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
16
|
6
|
1
|
1
|
0 |
0 |
24
|
Myriad Women's Health, Inc.
|
3
|
18
|
0 |
0 |
0 |
0 |
21
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
1
|
0 |
0 |
2
|
16
|
0 |
19
|
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam
|
0 |
0 |
0 |
4
|
13
|
0 |
17
|
Center for Human Disease Modeling,Duke University Medical Center
|
1
|
15
|
0 |
0 |
0 |
0 |
16
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
4
|
3
|
6
|
0 |
0 |
0 |
13
|
Sharon lab,Hadassah-Hebrew University Medical Center
|
9
|
4
|
0 |
0 |
0 |
0 |
13
|
Mendelics
|
6
|
0 |
2
|
1
|
3
|
0 |
12
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
6
|
3
|
3
|
0 |
0 |
0 |
12
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
6
|
3
|
1
|
1
|
0 |
0 |
11
|
Genetic Services Laboratory,University of Chicago
|
7
|
2
|
0 |
0 |
0 |
0 |
9
|
Department of Medical Genetics, Faculty of Medicine,Ege University
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Molecular Genetics Laboratory,Institute for Ophthalmic Research
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet
|
3
|
3
|
1
|
0 |
0 |
0 |
7
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
3
|
3
|
1
|
0 |
0 |
0 |
7
|
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Broad Institute Rare Disease Group,Broad Institute
|
2
|
3
|
1
|
1
|
0 |
0 |
7
|
Baylor Genetics
|
3
|
1
|
2
|
0 |
0 |
0 |
6
|
Institute of Human Genetics,Klinikum rechts der Isar
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Human Genetics - Radboudumc,Radboudumc
|
4
|
0 |
2
|
0 |
0 |
0 |
6
|
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Tolun Lab, Human Genetics Laboratory,Bogazici University
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Hadassah Hebrew University Medical Center
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
1
|
0 |
1
|
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Johns Hopkins Genomics,Johns Hopkins University
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Department of Neurology,Kindai University
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics,Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
InterGenetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Heon Lab,The Hospital for Sick Children
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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