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 |
122
|
115
|
3466
|
2238
|
366
|
233
|
6347
|
Gene and significance breakdown #
Total genes and gene combinations: 60
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
HCN4
|
3
|
8
|
739
|
516
|
43
|
0 |
1305
|
SCN10A
|
0 |
1
|
598
|
427
|
48
|
0 |
1068
|
SCN5A
|
74
|
83
|
447
|
131
|
38
|
213
|
880
|
CACNB2
|
2
|
0 |
301
|
246
|
37
|
2
|
570
|
CACNA2D1
|
0 |
1
|
205
|
261
|
52
|
0 |
518
|
SCN1B
|
18
|
7
|
281
|
129
|
42
|
1
|
464
|
SLMAP
|
0 |
0 |
178
|
149
|
30
|
0 |
357
|
GPD1L
|
4
|
0 |
117
|
113
|
14
|
2
|
237
|
LOC110121288, SCN10A
|
0 |
0 |
79
|
54
|
15
|
0 |
148
|
CACNA1C
|
3
|
2
|
104
|
24
|
5
|
6
|
139
|
SCN3B
|
4
|
1
|
66
|
37
|
10
|
1
|
114
|
KCNJ8
|
0 |
0 |
66
|
37
|
10
|
0 |
113
|
HCN4, LOC105370890, LOC126862173
|
2
|
0 |
52
|
44
|
0 |
0 |
98
|
LOC110121269, SCN5A
|
4
|
5
|
58
|
10
|
6
|
8
|
81
|
KCNE3
|
1
|
0 |
53
|
13
|
4
|
0 |
69
|
KCNE5
|
0 |
0 |
41
|
22
|
4
|
0 |
67
|
KCND3
|
3
|
3
|
16
|
5
|
0 |
0 |
23
|
TTN
|
0 |
0 |
12
|
3
|
1
|
0 |
16
|
GPD1L, LOC129936414
|
0 |
0 |
9
|
3
|
0 |
0 |
12
|
HCN4, LOC105370890
|
1
|
0 |
5
|
6
|
0 |
0 |
11
|
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
|
HRC, TRPM4
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
KCNE3, LIPT2
|
0 |
1
|
2
|
1
|
1
|
0 |
2
|
LAMA4
|
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
|
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
|
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, NEO1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AKAP9
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ALKBH6, APLP1, ARHGAP33, ATP4A, CAPNS1, CD22, CLIP3, COX6B1, COX7A1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HCST, HPN, HSPB6, IGFLR1, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LRFN3, LSR, MAG, NFKBID, NPHS1, OVOL3, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, SBSN, SCN1B, SDHAF1, SYNE4, TBCB, THAP8, TMEM147, TYROBP, U2AF1L4, UPK1A, USF2, WDR62, ZBTB32
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ANK2, LOC126807137
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ANKRD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CACNA1C, LINC02371, LOC130007181
|
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
|
KCNE1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNJ2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNQ1
|
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
|
39
|
20
|
2850
|
2107
|
284
|
0 |
5300
|
Fulgent Genetics, Fulgent Genetics
|
14
|
7
|
412
|
62
|
13
|
0 |
508
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
212
|
47
|
51
|
0 |
311
|
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
|
0 |
0 |
0 |
0 |
0 |
222
|
222
|
Mendelics
|
2
|
0 |
40
|
10
|
21
|
0 |
73
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
12
|
9
|
20
|
0 |
0 |
0 |
41
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
4
|
22
|
9
|
4
|
0 |
40
|
OMIM
|
34
|
0 |
1
|
0 |
0 |
0 |
35
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
1
|
25
|
1
|
0 |
0 |
29
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
6
|
9
|
8
|
0 |
23
|
New York Genome Center
|
1
|
0 |
20
|
0 |
0 |
0 |
21
|
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
|
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
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
3
|
9
|
0 |
2
|
0 |
16
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
2
|
5
|
6
|
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
6
|
6
|
0 |
12
|
Baylor Genetics
|
1
|
1
|
9
|
0 |
0 |
0 |
11
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
4
|
5
|
2
|
0 |
11
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
5
|
2
|
2
|
0 |
8
|
Phosphorus, Inc.
|
0 |
0 |
5
|
1
|
2
|
0 |
8
|
Revvity Omics, Revvity
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
1
|
2
|
4
|
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
4
|
2
|
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
2
|
1
|
0 |
0 |
0 |
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
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Center for Human Genetics, University of Leuven
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
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
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
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
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
deCODE genetics, Amgen
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
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
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
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
|
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genesis Genoma Lab, Genesis Genoma Lab
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Cardiology unit, Meyer University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
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
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
1
|
0 |
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
|
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