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 |
risk factor |
total |
270
|
128
|
171
|
47
|
88
|
2
|
688
|
Gene and significance breakdown #
Total genes and gene combinations: 18
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
CFTR
|
201
|
100
|
76
|
3
|
3
|
2
|
381
|
SCNN1A
|
6
|
5
|
36
|
12
|
40
|
0 |
93
|
SCNN1B
|
9
|
2
|
32
|
19
|
34
|
0 |
89
|
CFTR, LOC111674472
|
23
|
13
|
7
|
0 |
0 |
0 |
43
|
SCNN1G
|
2
|
1
|
11
|
6
|
6
|
0 |
25
|
CFTR, LOC111674475
|
16
|
0 |
2
|
0 |
0 |
0 |
18
|
CFTR, LOC111674477
|
6
|
4
|
0 |
0 |
0 |
0 |
10
|
LTBR, SCNN1A
|
0 |
0 |
1
|
3
|
4
|
0 |
8
|
CFTR, LOC113664106
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
BRWD1
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
CFTR, LOC113633877
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
LOC130007233, SCNN1A, TNFRSF1A
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
MYO9A
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
SCNN1A, TNFRSF1A
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
BRWD1, LOC130066680
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CFTR, LOC111674463
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
STAT1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
USP11
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Baylor Genetics
|
236
|
112
|
12
|
0 |
0 |
0 |
360
|
Fulgent Genetics, Fulgent Genetics
|
74
|
11
|
103
|
24
|
5
|
0 |
217
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
24
|
76
|
0 |
146
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
2
|
14
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
12
|
0 |
1
|
0 |
13
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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