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
|
87
|
162
|
167
|
41
|
27
|
595
|
Gene and significance breakdown #
Total genes and gene combinations: 18
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
KCNQ1
|
126
|
67
|
84
|
22
|
20
|
24
|
313
|
CALM2
|
7
|
11
|
33
|
66
|
6
|
0 |
121
|
CALM3
|
4
|
1
|
25
|
76
|
10
|
0 |
116
|
KCNQ1, KCNQ1OT1
|
2
|
2
|
4
|
0 |
2
|
2
|
12
|
KCNH2
|
0 |
3
|
2
|
1
|
0 |
1
|
7
|
AKAP9
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
CAV3, OXTR
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
SCN5A
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
ANK2
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KCNQ1, KCNQ1OT1, LOC106783508, LOC132089927, LOC132090832
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
SNTA1
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
CACNA1C
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CALM3, LOC130064760
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DSP
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130065680, SNTA1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PKP2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RYR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
11
|
7
|
59
|
142
|
17
|
0 |
236
|
Illumina Laboratory Services, Illumina
|
1
|
2
|
59
|
22
|
19
|
0 |
103
|
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes
|
38
|
11
|
5
|
0 |
3
|
0 |
57
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
32
|
13
|
7
|
0 |
0 |
0 |
52
|
OMIM
|
28
|
0 |
0 |
0 |
0 |
0 |
28
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
26
|
26
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
5
|
2
|
12
|
0 |
1
|
0 |
20
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
5
|
2
|
1
|
0 |
0 |
12
|
MGZ Medical Genetics Center
|
8
|
3
|
0 |
0 |
0 |
0 |
11
|
Mendelics
|
1
|
0 |
3
|
2
|
3
|
0 |
9
|
Clinical Genetics Laboratory, Region Ostergotland
|
6
|
3
|
0 |
0 |
0 |
0 |
9
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
5
|
2
|
1
|
0 |
0 |
0 |
8
|
Baylor Genetics
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
deCODE genetics, Amgen
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
George Lab Vanderbilt University
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
Roden Lab, Vanderbilt University Medical Center
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
New York Genome Center
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
3billion
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
2
|
0 |
1
|
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Medical Genetics Ghent, University of Ghent
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Biotechnology Research Center, Pasteur Institute of Iran
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Arcensus
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioinformatics dept., Datar Cancer Genetics Limited, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Akbari laboratory, Tarbiat Modares University
|
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
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Swiss DNAlysis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pediatrics, Graduate School of Medicine, Nagasaki University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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