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 |
258
|
76
|
628
|
179
|
157
|
1
|
1284
|
Gene and significance breakdown #
Total genes and gene combinations: 36
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BBS10
|
44
|
7
|
57
|
32
|
9
|
0 |
146
|
BBS9
|
18
|
2
|
78
|
17
|
26
|
0 |
141
|
ASTN2, TRIM32
|
13
|
0 |
104
|
17
|
4
|
0 |
138
|
BBS2
|
34
|
14
|
54
|
19
|
16
|
0 |
135
|
BBS12
|
29
|
3
|
54
|
22
|
24
|
0 |
129
|
BBS4
|
25
|
9
|
38
|
10
|
24
|
0 |
106
|
BBS1, ZDHHC24
|
24
|
8
|
39
|
20
|
8
|
0 |
97
|
WDPCP
|
3
|
2
|
62
|
14
|
10
|
0 |
91
|
BBS7
|
13
|
6
|
45
|
5
|
6
|
0 |
75
|
BBS1
|
27
|
8
|
22
|
9
|
4
|
1
|
67
|
TTC8
|
2
|
0 |
36
|
6
|
7
|
0 |
50
|
BBS5
|
10
|
5
|
16
|
5
|
10
|
0 |
46
|
MKKS
|
7
|
2
|
3
|
1
|
4
|
0 |
17
|
CEP290
|
0 |
0 |
7
|
0 |
3
|
0 |
10
|
ARL6
|
5
|
1
|
1
|
1
|
1
|
0 |
9
|
AKT3, SDCCAG8
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
MKS1
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
C12orf29, CEP290
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
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
|
BBS4, HIGD2B
|
0 |
0 |
0 |
0 |
1
|
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
|
IFT172
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IFT27
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IFT27, LOC105373021
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IFT74
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KCNAB2, NPHP4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NPHP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SDCCAG8
|
1
|
0 |
0 |
0 |
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
|
176
|
35
|
579
|
171
|
134
|
0 |
1095
|
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
43
|
7
|
7
|
0 |
57
|
Laboratory of Medical Genetics, INSERM
|
50
|
0 |
0 |
0 |
0 |
0 |
50
|
Integrated Genetics/Laboratory Corporation of America
|
22
|
10
|
0 |
1
|
1
|
0 |
34
|
GeneReviews
|
9
|
0 |
0 |
0 |
16
|
0 |
25
|
Center for Human Disease Modeling,Duke University Medical Center
|
1
|
15
|
0 |
0 |
0 |
0 |
16
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
10
|
3
|
0 |
0 |
0 |
0 |
13
|
Sharon lab,Hadassah-Hebrew University Medical Center
|
9
|
4
|
0 |
0 |
0 |
0 |
13
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
6
|
3
|
3
|
0 |
0 |
0 |
12
|
Molecular Genetics Laboratory,Institute for Ophthalmic Research
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet
|
3
|
3
|
1
|
0 |
0 |
0 |
7
|
Counsyl
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Tolun Lab, Human Genetics Laboratory,Bogazici University
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Natera, Inc.
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group,Broad Institute
|
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
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
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