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 |
established risk allele |
risk factor |
other |
not provided |
total |
315
|
124
|
2621
|
2728
|
261
|
1
|
1
|
4
|
63
|
6060
|
Gene and significance breakdown #
Total genes and gene combinations: 63
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
established risk allele |
risk factor |
other |
not provided |
total |
SMARCA4
|
118
|
53
|
2030
|
2261
|
115
|
0 |
0 |
0 |
1
|
4547
|
TSC2
|
36
|
10
|
143
|
152
|
4
|
0 |
0 |
0 |
39
|
378
|
PDGFRB
|
17
|
1
|
87
|
178
|
79
|
0 |
0 |
0 |
1
|
358
|
ANTXR2
|
16
|
14
|
101
|
16
|
29
|
0 |
0 |
0 |
0 |
174
|
APC
|
26
|
2
|
68
|
10
|
3
|
0 |
0 |
0 |
1
|
110
|
TSC1
|
14
|
2
|
47
|
38
|
3
|
0 |
0 |
0 |
6
|
109
|
FGFR1
|
4
|
7
|
43
|
26
|
2
|
0 |
0 |
0 |
2
|
80
|
SMARCB1
|
11
|
1
|
36
|
5
|
16
|
0 |
0 |
0 |
0 |
68
|
NOTCH3
|
7
|
5
|
17
|
20
|
2
|
0 |
0 |
0 |
3
|
52
|
DICER1
|
8
|
2
|
15
|
9
|
1
|
0 |
0 |
0 |
0 |
35
|
NSDHL
|
10
|
5
|
7
|
9
|
2
|
0 |
0 |
0 |
4
|
34
|
TP53
|
12
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
NF1
|
8
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
BRCA2
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
KRAS
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
7
|
CTNNB1, LOC126806658
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
PDGFB
|
1
|
0 |
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
SMARCE1
|
0 |
0 |
0 |
3
|
1
|
0 |
0 |
0 |
0 |
4
|
FGFR4
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
PAX3
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ALK
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ANTXR2, LOC129992737
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
ANTXR2, LOC129992738
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
BRCA1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CBL
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DERL3, SMARCB1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
HRAS, LRRC56
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MFN2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PAX7
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PCSK7
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PTCH1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SDHA
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SUFU
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
intergenic
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
APC, LOC129994371
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATRX
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BCAN, BGLAP, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, METTL25B, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPTF
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHEK2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ERCC2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GLI2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GNA14
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL6, LOC126859963
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806529, PAX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130002133, PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130058210, TSC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130063807, NOTCH3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MED12
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MET, RBPMS
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
MSH2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NPIPB2, TNFRSF17
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
NTHL1, TSC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PIK3CA
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
PKD1, TSC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PMS2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PTEN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PTPN11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
RECQL4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SDHC
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SLC22A18
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
established risk allele |
risk factor |
other |
not provided |
total |
Invitae
|
115
|
44
|
2096
|
2422
|
194
|
0 |
0 |
0 |
0 |
4871
|
Fulgent Genetics, Fulgent Genetics
|
46
|
19
|
332
|
278
|
15
|
0 |
0 |
0 |
0 |
690
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
120
|
18
|
44
|
0 |
0 |
0 |
0 |
183
|
Baylor Genetics
|
10
|
8
|
151
|
0 |
0 |
0 |
0 |
0 |
0 |
169
|
OMIM
|
42
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
43
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
36
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
42
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
13
|
5
|
18
|
4
|
0 |
0 |
0 |
0 |
0 |
40
|
Tuberous sclerosis database (TSC2)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
39
|
39
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
15
|
1
|
17
|
1
|
1
|
0 |
0 |
0 |
0 |
35
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
5
|
3
|
23
|
2
|
0 |
0 |
0 |
0 |
0 |
33
|
Mendelics
|
9
|
0 |
2
|
5
|
3
|
0 |
0 |
0 |
0 |
19
|
Demoulin lab, University of Louvain
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
11
|
Genetic Services Laboratory, University of Chicago
|
7
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Database of Curated Mutations (DoCM)
|
1
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
5
|
4
|
0 |
0 |
0 |
0 |
9
|
Tuberous sclerosis database (TSC1)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Applied Genomics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Hadassah Hebrew University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Tampere Brain Tumor Research Consortium, University of Tampere
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - CureCADASIL
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dobyns Lab, Seattle Children's Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Sciences Centre, British Columbia Cancer Agency
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
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 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hunter Genetics General Clinical Genetics Service, Hunter Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genetics Department, Hospital Sant Joan de Deu
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics For Life
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cancer Genomics Laboratory, Texas Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Michigan Center for Translational Pathology, University of Michigan
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
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GenomeConnect - Invitae Patient Insights Network
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1
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Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
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1
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1
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Davare Laboratory, Oregon Health & Science University
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Molecular Genetics, Royal Melbourne Hospital
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1
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Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences
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1
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Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
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1
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1
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Coban-Akdemir Lab, University of Texas Health Science Center
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1
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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
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