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
|
244
|
292
|
170
|
116
|
5
|
932
|
Gene and significance breakdown #
Total genes and gene combinations: 85
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
TTR
|
95
|
39
|
111
|
90
|
15
|
5
|
320
|
GSN
|
6
|
2
|
86
|
44
|
45
|
0 |
172
|
TP53
|
1
|
65
|
0 |
0 |
0 |
0 |
65
|
FGA
|
9
|
5
|
17
|
7
|
19
|
0 |
55
|
LYZ
|
5
|
0 |
27
|
5
|
17
|
0 |
53
|
APOA1
|
9
|
1
|
15
|
13
|
10
|
0 |
48
|
APP
|
6
|
4
|
9
|
4
|
0 |
0 |
23
|
BRAF
|
0 |
20
|
0 |
0 |
0 |
0 |
20
|
LIG4
|
2
|
0 |
12
|
0 |
0 |
0 |
14
|
NRAS
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
B2M
|
2
|
6
|
2
|
3
|
0 |
0 |
13
|
HRAS, LRRC56
|
0 |
13
|
0 |
0 |
0 |
0 |
13
|
GPNMB
|
7
|
2
|
1
|
0 |
0 |
0 |
10
|
OSMR
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
IDH1
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
IL31RA
|
1
|
0 |
0 |
0 |
4
|
0 |
5
|
KRAS
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
CDK4
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
DSG2, TTR
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
PTPN11
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
FGFR3
|
3
|
1
|
0 |
0 |
0 |
0 |
3
|
IDH2
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
ITM2B
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
PIK3CA
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
CST3
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
CST3, LOC130065546
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
FAT1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
KMT2C
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
TET2
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
TTN
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AKAP9
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARID4A
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AURKA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BARD1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BCORL1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CACNA1C
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CDKN2C
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CRBN, TRNT1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CREBBP
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CST3, LOC130065547
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
CYLD
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DIS3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DNMT3A
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DSP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EIF1AX
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ERF
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FLT3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
H1-4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
H2AC16
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
H2AC17
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
H3C1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HDAC4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IL7R
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ITM2B, LOC130009751
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ITM2B, LOC130009752
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KDM5C, LOC130068308
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KMT2D
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LATS1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130063979, PIK3R2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MST1R
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MYBPC3
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MYD88
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MYL3
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
NCOR2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NF1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NKX2-1, SFTA3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
P2RY8
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PIK3R2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PKP2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
RECQL4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RXRA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SAMHD1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SGK1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SH2B3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TCF3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TET3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TMPO
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TNNI3
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TRAF5
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
YAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
70
|
27
|
96
|
79
|
12
|
0 |
284
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
91
|
26
|
92
|
0 |
211
|
Fulgent Genetics, Fulgent Genetics
|
16
|
6
|
99
|
67
|
3
|
0 |
191
|
Database of Curated Mutations (DoCM)
|
0 |
139
|
0 |
0 |
0 |
0 |
139
|
OMIM
|
89
|
0 |
0 |
0 |
0 |
0 |
89
|
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center
|
1
|
52
|
0 |
0 |
0 |
0 |
53
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
18
|
4
|
0 |
1
|
1
|
0 |
24
|
Mendelics
|
9
|
1
|
3
|
1
|
2
|
0 |
16
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
3
|
2
|
6
|
3
|
0 |
0 |
14
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
1
|
0 |
0 |
5
|
5
|
0 |
11
|
3billion
|
4
|
3
|
1
|
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
5
|
2
|
0 |
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Amyloidosis Center, Boston University School of Medicine
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Ophthalmology, Flinders Medical Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
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
|
Molecular Medicine Center, Medical University of Sofia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Medico-Diagnostic Laboratory Genica
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
University Health Network, Princess Margaret Cancer Centre
|
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
|
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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