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 |
91
|
505
|
1501
|
297
|
128
|
1
|
2502
|
Gene and significance breakdown #
Total genes and gene combinations: 23
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TTN
|
81
|
446
|
1339
|
250
|
109
|
1
|
2207
|
LOC126806425, TTN
|
0 |
8
|
19
|
4
|
0 |
0 |
31
|
LOC101927055, TTN
|
0 |
3
|
13
|
8
|
5
|
0 |
28
|
LOC126806423, TTN
|
4
|
9
|
11
|
3
|
1
|
0 |
28
|
LOC126806424, TTN
|
3
|
8
|
12
|
2
|
1
|
0 |
26
|
LOC126806430, TTN
|
0 |
1
|
20
|
2
|
1
|
0 |
24
|
LOC126806422, TTN
|
0 |
7
|
12
|
4
|
0 |
0 |
23
|
LOC126806426, TTN
|
1
|
6
|
10
|
0 |
2
|
0 |
19
|
LOC126806421, TTN
|
0 |
5
|
11
|
1
|
1
|
0 |
18
|
LOC126806427, TTN
|
0 |
2
|
6
|
7
|
1
|
0 |
15
|
LOC126806420, TTN
|
0 |
4
|
6
|
3
|
0 |
0 |
13
|
LOC129935183, TTN
|
0 |
0 |
8
|
3
|
2
|
0 |
13
|
LOC126806431, TTN
|
0 |
1
|
8
|
3
|
0 |
0 |
12
|
LOC126806433, TTN
|
0 |
2
|
8
|
0 |
2
|
0 |
12
|
LOC126806428, TTN
|
0 |
0 |
6
|
2
|
3
|
0 |
11
|
LOC126806429, TTN
|
0 |
0 |
5
|
3
|
0 |
0 |
8
|
LOC129935184, TTN
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
LOC129935182, TTN
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
DSP
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129935185, TTN
|
0 |
0 |
0 |
1
|
0 |
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
|
1
|
12
|
1361
|
294
|
122
|
0 |
1790
|
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere
|
13
|
268
|
19
|
0 |
0 |
0 |
300
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
44
|
25
|
1
|
0 |
0 |
74
|
Baylor Genetics
|
3
|
11
|
50
|
0 |
0 |
0 |
64
|
Labcorp Genetics (formerly Invitae), Labcorp
|
3
|
39
|
0 |
0 |
0 |
0 |
42
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
4
|
9
|
18
|
0 |
0 |
0 |
31
|
deCODE genetics, Amgen
|
2
|
24
|
0 |
0 |
0 |
0 |
26
|
KTest Genetics, KTest
|
18
|
6
|
0 |
0 |
0 |
0 |
24
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
3
|
18
|
1
|
0 |
0 |
0 |
22
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
14
|
5
|
0 |
0 |
0 |
19
|
Institute of Human Genetics, University of Leipzig Medical Center
|
6
|
6
|
3
|
0 |
0 |
0 |
15
|
Mendelics
|
5
|
0 |
2
|
2
|
5
|
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
|
MVZ Medizinische Genetik Mainz
|
0 |
6
|
2
|
0 |
0 |
0 |
8
|
3billion
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
3
|
3
|
0 |
0 |
0 |
6
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
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
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Genomics England Pilot Project, Genomics England
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Institute of Immunology and Genetics Kaiserslautern
|
2
|
2
|
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
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Heidelberg University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory, Motol Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara
|
0 |
1
|
1
|
0 |
0 |
0 |
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
|
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
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
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
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
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics, Clalit Research Institute, Clalit Health Care
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
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
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Centre, Carl Von Ossietzky University Oldenburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio Biología Molecular, Sanatorio Americano
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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