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 |
81
|
90
|
1898
|
1221
|
226
|
227
|
3620
|
Gene and significance breakdown #
Total genes and gene combinations: 53
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
SCN10A
|
0 |
1
|
598
|
427
|
48
|
0 |
1068
|
SCN5A
|
74
|
80
|
446
|
131
|
38
|
212
|
876
|
CACNA2D1
|
0 |
1
|
205
|
261
|
52
|
0 |
518
|
SLMAP
|
0 |
0 |
178
|
149
|
30
|
0 |
357
|
GPD1L
|
0 |
0 |
113
|
106
|
14
|
0 |
233
|
LOC110121288, SCN10A
|
0 |
0 |
79
|
54
|
15
|
0 |
148
|
KCNJ8
|
0 |
0 |
66
|
37
|
10
|
0 |
113
|
LOC110121269, SCN5A
|
4
|
5
|
58
|
10
|
6
|
8
|
81
|
KCNE5
|
0 |
0 |
41
|
22
|
4
|
0 |
67
|
CACNB2
|
0 |
0 |
28
|
3
|
0 |
1
|
32
|
CACNA1C
|
0 |
0 |
11
|
4
|
2
|
6
|
23
|
TTN
|
0 |
0 |
12
|
3
|
1
|
0 |
16
|
GPD1L, LOC129936414
|
0 |
0 |
9
|
3
|
0 |
0 |
12
|
KCNE3
|
0 |
0 |
7
|
4
|
0 |
0 |
11
|
SCN3B
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
KCNH2
|
0 |
3
|
1
|
1
|
0 |
0 |
5
|
TRPM4
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
ANK2
|
0 |
0 |
3
|
1
|
0 |
0 |
3
|
DSP
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
HCN4
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
HRC, TRPM4
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MYBPC3
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MYH6
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
PKP2
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
SCN1B
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ABCC9
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ABCC9, KCNJ8
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111465007, LOC112935929, LOC112935930, LOC120285841, LOC121725139, LOC122889068, LOC122889069, LOC126806651, LOC126806652, LOC129389057, LOC129389058, LOC129936473, LOC129936474, LOC129936475, LOC129936476, LOC129936477, LOC129936478, LOC129936479, LOC129936480, LOC129936481, LOC129936482, LOC129936483, LOC129936484, LOC129936485, LOC129936486, LOC129936487, LOC129936488, LOC129936489, LOC129936490, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ACVR2B, EXOG, LOC110121269, LOC110121286, LOC110121287, LOC129936487, LOC129936488, SCN5A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ACVR2B, EXOG, SCN10A, SCN11A, SCN5A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AKAP9
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ANK2, LOC126807137
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ANKRD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CACNA1C, LOC130007181
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
COL5A1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DMD
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FBN1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNA5
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
KCND3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNE1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNJ2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNQ1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LAMA4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC110121269, LOC110121288, LOC129936489, SCN10A, SCN5A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126806431, TTN
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MYBPHL
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RYR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SNTA1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SOS1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TCAP
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
TGFB3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TTR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
17
|
7
|
1434
|
1137
|
174
|
0 |
2769
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
198
|
46
|
25
|
0 |
270
|
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
|
0 |
0 |
0 |
0 |
0 |
222
|
222
|
Fulgent Genetics, Fulgent Genetics
|
12
|
6
|
162
|
10
|
5
|
0 |
195
|
Mendelics
|
2
|
0 |
39
|
10
|
16
|
0 |
67
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
4
|
22
|
9
|
4
|
0 |
40
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
12
|
9
|
13
|
0 |
0 |
0 |
34
|
Blueprint Genetics
|
1
|
5
|
13
|
1
|
0 |
0 |
20
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
1
|
0 |
6
|
7
|
5
|
0 |
19
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
5
|
13
|
0 |
0 |
0 |
0 |
18
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
3
|
6
|
8
|
0 |
1
|
0 |
18
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
CSER _CC_NCGL, University of Washington
|
0 |
1
|
13
|
2
|
0 |
0 |
16
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
3
|
2
|
7
|
2
|
2
|
0 |
16
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
15
|
0 |
0 |
0 |
15
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
3
|
7
|
0 |
2
|
0 |
14
|
New York Genome Center
|
1
|
0 |
13
|
0 |
0 |
0 |
14
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
4
|
5
|
2
|
0 |
11
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
2
|
4
|
5
|
0 |
0 |
0 |
11
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
5
|
2
|
2
|
0 |
8
|
MGZ Medical Genetics Center
|
1
|
2
|
4
|
0 |
0 |
0 |
7
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
4
|
2
|
0 |
0 |
0 |
6
|
Phosphorus, Inc.
|
0 |
0 |
3
|
1
|
1
|
0 |
5
|
Baylor Genetics
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Center for Medical Genetics Ghent, University of Ghent
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Roden Lab, Vanderbilt University Medical Center
|
0 |
3
|
0 |
1
|
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Center for Human Genetics, University of Leuven
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centre of Medical Genetics, University of Antwerp
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
deCODE genetics, Amgen
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GOSgene, University College London Great Ormond Street Institute of Child Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genesis Genoma Lab, Genesis Genoma Lab
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cardiology unit, Meyer University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Research Institute, Imperial College London Diabetes Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Muscat Medical Center, Bion Medical Genetic Lab
|
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. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.