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 |
risk factor |
not provided |
total |
79
|
39
|
1256
|
470
|
89
|
1
|
20
|
1884
|
Gene and significance breakdown #
Total genes and gene combinations: 37
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
KCNA5
|
6
|
1
|
294
|
137
|
22
|
0 |
0 |
427
|
KCNQ1
|
20
|
14
|
121
|
36
|
8
|
0 |
4
|
200
|
GJA5
|
5
|
0 |
136
|
61
|
4
|
0 |
0 |
198
|
SCN5A
|
20
|
8
|
156
|
10
|
4
|
0 |
10
|
195
|
MYL4
|
4
|
7
|
103
|
67
|
8
|
0 |
0 |
188
|
KCNJ2
|
3
|
2
|
112
|
7
|
16
|
0 |
2
|
139
|
SCN2B
|
2
|
0 |
71
|
55
|
4
|
0 |
0 |
130
|
LOC114827827, NPPA
|
1
|
0 |
78
|
47
|
4
|
0 |
0 |
128
|
GJA5, LOC122128420
|
2
|
0 |
44
|
15
|
1
|
0 |
0 |
62
|
ABCC9
|
2
|
0 |
48
|
8
|
0 |
0 |
1
|
59
|
KCNE2, LOC105372791
|
1
|
1
|
25
|
3
|
2
|
0 |
2
|
31
|
SCN1B
|
3
|
3
|
21
|
4
|
0 |
0 |
1
|
30
|
LOC110121269, SCN5A
|
1
|
1
|
24
|
1
|
1
|
0 |
0 |
28
|
KCNQ1, KCNQ1OT1
|
0 |
0 |
7
|
8
|
2
|
0 |
0 |
17
|
TTN
|
0 |
0 |
2
|
6
|
4
|
0 |
0 |
12
|
NPPA
|
1
|
0 |
1
|
4
|
1
|
0 |
0 |
7
|
NUP155
|
1
|
0 |
3
|
0 |
1
|
0 |
0 |
5
|
SCN3B
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
KCNJ2, LOC130061539
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
BAG3
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
HCN4
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
SCN4B
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CLCN6, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, MAD2L2, MASP2, MTHFR, MTOR, NPPA, SRM, TARDBP, UBIAD1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AGTRAP, ANGPTL7, C1orf167, CLCN6, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, KIAA2013, MAD2L2, MASP2, MTHFR, MTOR, NPPA, NPPB, PLOD1, SRM, TARDBP, UBIAD1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AKAP9
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ANK2
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CORIN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCNA1, KCNA5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KCNH2
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LAMA4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC101927055, TTN
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126806430, TTN
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC126861897, MHRT, MYH7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NEBL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PITX2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SNTA1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZFHX3
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
4
|
7
|
649
|
366
|
40
|
0 |
0 |
1066
|
Fulgent Genetics, Fulgent Genetics
|
32
|
18
|
372
|
36
|
7
|
0 |
0 |
465
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
267
|
61
|
31
|
0 |
0 |
359
|
OMIM
|
41
|
0 |
0 |
0 |
0 |
1
|
0 |
42
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
1
|
21
|
0 |
0 |
0 |
0 |
24
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
1
|
3
|
7
|
10
|
0 |
0 |
21
|
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
|
0 |
0 |
0 |
0 |
0 |
0 |
17
|
17
|
New York Genome Center
|
0 |
1
|
15
|
0 |
0 |
0 |
0 |
16
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
4
|
5
|
0 |
0 |
13
|
Baylor Genetics
|
3
|
1
|
8
|
0 |
0 |
0 |
0 |
12
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
1
|
0 |
1
|
1
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Toronto General Hospital, University of Toronto
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pathophysiology of Heart Rhythm Disorders, Université Lyon 1 Claude Bernard
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics Institute, Tel Aviv Sourasky Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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