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.
Gene and significance breakdown #
Total genes and gene combinations: 30
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TTN
|
206
|
1917
|
6240
|
10341
|
834
|
12
|
18681
|
LOC101927055, TTN
|
1
|
4
|
75
|
152
|
17
|
0 |
238
|
LOC126806422, TTN
|
1
|
38
|
47
|
121
|
6
|
0 |
203
|
LOC126806423, TTN
|
5
|
33
|
47
|
105
|
8
|
0 |
188
|
LOC126806425, TTN
|
1
|
34
|
46
|
98
|
8
|
0 |
175
|
LOC126806424, TTN
|
3
|
30
|
46
|
90
|
7
|
0 |
167
|
LOC126806430, TTN
|
0 |
1
|
47
|
113
|
16
|
0 |
163
|
LOC126806421, TTN
|
1
|
27
|
41
|
87
|
7
|
0 |
158
|
LOC126806431, TTN
|
0 |
1
|
49
|
103
|
7
|
0 |
154
|
LOC126806426, TTN
|
0 |
23
|
33
|
81
|
4
|
0 |
138
|
LOC126806420, TTN
|
0 |
28
|
28
|
69
|
7
|
0 |
127
|
LOC126806427, TTN
|
1
|
3
|
45
|
77
|
11
|
0 |
126
|
LOC129935183, TTN
|
2
|
9
|
84
|
29
|
5
|
0 |
126
|
LOC126806433, TTN
|
0 |
4
|
45
|
75
|
2
|
0 |
125
|
LOC126806428, TTN
|
0 |
1
|
34
|
87
|
5
|
0 |
121
|
LOC126806429, TTN
|
0 |
0 |
31
|
56
|
6
|
0 |
86
|
LOC129935182, TTN
|
1
|
7
|
44
|
13
|
0 |
0 |
64
|
LOC129935184, TTN
|
0 |
0 |
20
|
10
|
1
|
0 |
28
|
LOC129935185, TTN
|
0 |
1
|
13
|
5
|
1
|
0 |
19
|
LOC126806432, TTN
|
0 |
0 |
10
|
1
|
1
|
0 |
12
|
LOC129935186, TTN
|
0 |
2
|
3
|
6
|
0 |
0 |
11
|
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FKBP7, PJVK, PLEKHA3, PRKRA, TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126806425, LOC126806426, LOC126806427, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129388955, TTN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
171
|
2062
|
5350
|
11393
|
947
|
0 |
19923
|
Illumina Laboratory Services, Illumina
|
1
|
11
|
1361
|
294
|
122
|
0 |
1789
|
Fulgent Genetics, Fulgent Genetics
|
15
|
55
|
1057
|
140
|
18
|
0 |
1285
|
New York Genome Center
|
2
|
7
|
77
|
0 |
0 |
0 |
86
|
Baylor Genetics
|
7
|
11
|
54
|
0 |
0 |
0 |
71
|
deCODE genetics, Amgen
|
2
|
24
|
0 |
0 |
0 |
0 |
26
|
KTest Genetics, KTest
|
18
|
6
|
0 |
0 |
0 |
0 |
24
|
Mendelics
|
5
|
0 |
2
|
2
|
5
|
0 |
14
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
7
|
3
|
0 |
0 |
0 |
14
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
10
|
1
|
0 |
0 |
0 |
12
|
Phosphorus, Inc.
|
0 |
0 |
10
|
0 |
2
|
0 |
12
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
3billion
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
3
|
3
|
0 |
0 |
0 |
6
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Genomics England Pilot Project, Genomics England
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, Cologne University
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Heidelberg University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Medical Genetics Ghent, University of Ghent
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
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
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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