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 |
|
143
|
636
|
1540
|
297
|
128
|
2
|
2717
|
Gene and significance breakdown #
Total genes and gene combinations: 25
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
TTN
|
126
|
558
|
1378
|
250
|
109
|
2
|
2396
|
|
LOC126806423, TTN
|
4
|
15
|
11
|
3
|
1
|
0 |
34
|
|
LOC126806425, TTN
|
2
|
10
|
19
|
4
|
0 |
0 |
34
|
|
LOC101927055, TTN
|
0 |
5
|
12
|
8
|
5
|
0 |
30
|
|
LOC126806424, TTN
|
4
|
8
|
12
|
2
|
1
|
0 |
27
|
|
LOC126806422, TTN
|
0 |
8
|
12
|
4
|
0 |
0 |
24
|
|
LOC126806430, TTN
|
0 |
1
|
20
|
2
|
1
|
0 |
24
|
|
LOC126806421, TTN
|
1
|
7
|
11
|
1
|
1
|
0 |
21
|
|
LOC126806426, TTN
|
1
|
7
|
10
|
0 |
2
|
0 |
20
|
|
LOC126806427, TTN
|
0 |
3
|
6
|
7
|
1
|
0 |
16
|
|
LOC129935183, TTN
|
0 |
3
|
8
|
3
|
2
|
0 |
16
|
|
LOC126806420, TTN
|
0 |
4
|
6
|
3
|
0 |
0 |
13
|
|
LOC126806433, TTN
|
0 |
3
|
8
|
0 |
2
|
0 |
13
|
|
LOC126806428, TTN
|
1
|
0 |
6
|
2
|
3
|
0 |
12
|
|
LOC126806431, TTN
|
0 |
1
|
8
|
3
|
0 |
0 |
12
|
|
LOC126806429, TTN
|
0 |
0 |
5
|
3
|
0 |
0 |
8
|
|
LOC129935182, TTN
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
|
LOC129935184, TTN
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
|
CCDC141, TTN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
CYLD, NOD2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
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
|
13
|
1358
|
294
|
122
|
0 |
1788
|
|
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
|
12
|
67
|
28
|
1
|
0 |
0 |
108
|
|
Baylor Genetics
|
3
|
11
|
50
|
0 |
0 |
0 |
64
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
11
|
16
|
35
|
0 |
0 |
0 |
62
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
10
|
38
|
1
|
0 |
0 |
0 |
49
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
3
|
39
|
0 |
0 |
0 |
0 |
42
|
|
3billion
|
12
|
17
|
5
|
0 |
0 |
0 |
34
|
|
deCODE genetics, Amgen
|
2
|
24
|
0 |
0 |
0 |
0 |
26
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
13
|
9
|
3
|
0 |
0 |
0 |
25
|
|
KTest Genetics, KTest
|
18
|
6
|
0 |
0 |
0 |
0 |
24
|
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
19
|
5
|
0 |
0 |
0 |
24
|
|
Institute of Immunology and Genetics Kaiserslautern
|
9
|
5
|
0 |
0 |
0 |
0 |
14
|
|
MVZ Martinsried, Medicover Genetics
|
1
|
12
|
1
|
0 |
0 |
0 |
14
|
|
Mendelics
|
5
|
0 |
2
|
2
|
5
|
0 |
14
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
6
|
7
|
0 |
0 |
0 |
13
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
9
|
2
|
0 |
0 |
0 |
12
|
|
MVZ Medizinische Genetik Mainz
|
0 |
9
|
3
|
0 |
0 |
0 |
12
|
|
Phosphorus, Inc.
|
0 |
0 |
10
|
0 |
2
|
0 |
12
|
|
Human Genetics Bochum, Ruhr University Bochum
|
2
|
6
|
1
|
0 |
0 |
0 |
9
|
|
Department of Human Genetics, Hannover Medical School
|
1
|
4
|
3
|
0 |
0 |
0 |
8
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
|
IMHOTEP Cardiovascular Genetics Laboratory, University of Cape Town
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Molecular Genetics Laboratory, Motol Hospital
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Hadassah Hebrew University Medical Center
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
2
|
3
|
0 |
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
|
|
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 Human Genetics, Cologne University
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics, Heidelberg University
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
CGC Genetics, Unilabs
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Diagnostics Centre, Carl Von Ossietzky University Oldenburg
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
MVZ Praenatalmedizin und Genetik Nuernberg
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
OLLIN Analises Genomicas, OLLIN
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Genomics, Clalit Research Institute, Clalit Health Care
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio Biología Molecular, Sanatorio Americano
|
0 |
2
|
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
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Breda Genetics srl, Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Medical Genetics Ghent, University of Ghent
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada
|
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
|
|
Department of Obstetrics and Gynecology, Women and Children’s Hospital Affiliated to Ningbo University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics Department, Catlab
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust
|
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
|
|
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.