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 |
156
|
139
|
2980
|
2890
|
291
|
9
|
6335
|
Gene and significance breakdown #
Total genes and gene combinations: 21
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
RYR2
|
79
|
100
|
2186
|
2111
|
210
|
7
|
4576
|
TRDN
|
30
|
10
|
427
|
383
|
47
|
1
|
896
|
CASQ2
|
37
|
15
|
160
|
236
|
19
|
0 |
466
|
LOC126806068, RYR2
|
10
|
11
|
127
|
106
|
6
|
1
|
255
|
LOC126806067, RYR2
|
0 |
0 |
60
|
54
|
5
|
0 |
115
|
ACTN2, MT1HL1, MTR, RYR2
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
CASQ2, VANGL1
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
ANK2
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
CALM1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MYBPC3
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
SCN5A
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ATP1A1, CASQ2, LINC01649, MAB21L3, NHLH2, SLC22A15
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DMPK
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DSG2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DSP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNH2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LAMA4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LMNA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129389631, TRDN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SCN4B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TRPM4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
145
|
94
|
2822
|
2858
|
259
|
0 |
6178
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
139
|
53
|
89
|
0 |
281
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
3
|
15
|
15
|
0 |
0 |
0 |
33
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
10
|
7
|
12
|
1
|
0 |
0 |
30
|
Blueprint Genetics
|
1
|
13
|
15
|
0 |
0 |
0 |
29
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
23
|
0 |
23
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Baylor Genetics
|
0 |
4
|
5
|
0 |
0 |
0 |
9
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
7
|
0 |
0 |
0 |
9
|
Mendelics
|
0 |
0 |
2
|
1
|
3
|
0 |
6
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
2
|
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Center for Medical Genetics Ghent, University of Ghent
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
1
|
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 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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