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 |
16
|
34
|
1473
|
194
|
642
|
1
|
2222
|
Gene and significance breakdown #
Total genes and gene combinations: 20
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TTN
|
15
|
27
|
1313
|
164
|
551
|
0 |
1955
|
LOC101927055, TTN
|
0 |
1
|
13
|
3
|
13
|
0 |
28
|
LOC126806425, TTN
|
0 |
1
|
17
|
1
|
9
|
0 |
27
|
LOC126806430, TTN
|
0 |
0 |
19
|
1
|
6
|
0 |
26
|
LOC126806422, TTN
|
0 |
0 |
12
|
3
|
7
|
0 |
19
|
LOC126806424, TTN
|
0 |
0 |
13
|
2
|
5
|
0 |
18
|
LOC126806420, TTN
|
0 |
0 |
11
|
2
|
6
|
0 |
17
|
LOC126806421, TTN
|
0 |
1
|
10
|
0 |
5
|
0 |
16
|
LOC126806423, TTN
|
0 |
0 |
9
|
2
|
7
|
0 |
16
|
LOC126806427, TTN
|
0 |
0 |
7
|
4
|
8
|
0 |
15
|
LOC126806431, TTN
|
0 |
0 |
8
|
3
|
4
|
0 |
14
|
LOC129935183, TTN
|
0 |
2
|
6
|
3
|
6
|
0 |
14
|
LOC126806426, TTN
|
0 |
0 |
11
|
0 |
1
|
0 |
12
|
LOC126806429, TTN
|
0 |
0 |
5
|
2
|
6
|
0 |
12
|
LOC126806428, TTN
|
0 |
0 |
5
|
2
|
4
|
0 |
11
|
LOC126806433, TTN
|
0 |
1
|
7
|
1
|
2
|
0 |
11
|
LOC129935184, TTN
|
1
|
0 |
4
|
1
|
1
|
1
|
6
|
LOC129935182, TTN
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
LOC129935185, TTN
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LOC129935186, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
1421
|
193
|
199
|
0 |
1813
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
635
|
0 |
635
|
Baylor Genetics
|
3
|
8
|
33
|
0 |
0 |
0 |
44
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
2
|
8
|
0 |
0 |
0 |
0 |
10
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
6
|
1
|
0 |
0 |
0 |
8
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Suma Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Medical Genetics, National Institute of Health
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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