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 |
126
|
76
|
1617
|
1180
|
86
|
1
|
8
|
2933
|
Gene and significance breakdown #
Total genes and gene combinations: 32
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
RET
|
84
|
43
|
1542
|
1148
|
83
|
0 |
7
|
2756
|
LOC106736614, RET
|
0 |
0 |
31
|
8
|
0 |
0 |
0 |
38
|
HRAS, LRRC56
|
11
|
9
|
7
|
4
|
0 |
0 |
0 |
26
|
LOC130003710, RET
|
0 |
0 |
4
|
14
|
0 |
0 |
0 |
17
|
NTRK1
|
2
|
1
|
14
|
0 |
0 |
0 |
0 |
17
|
KRAS
|
13
|
4
|
0 |
0 |
0 |
0 |
0 |
16
|
SRGAP1
|
2
|
0 |
2
|
1
|
0 |
1
|
0 |
6
|
NRAS
|
1
|
3
|
1
|
0 |
0 |
0 |
0 |
5
|
PIK3CA
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
BRAF
|
2
|
3
|
0 |
0 |
0 |
0 |
1
|
4
|
HABP2
|
0 |
0 |
2
|
2
|
0 |
0 |
0 |
4
|
LOC110121502, MCS+9.7, RET
|
0 |
0 |
0 |
1
|
3
|
0 |
0 |
4
|
FOXE1
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
3
|
INSRR, NTRK1
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
LOC130064074, NDUFA13
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
MINPP1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ATM, C11orf65
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MEN1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NKX2-1, SFTA3
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
PTEN
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
RINT1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
TP53
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AKT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALK
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BARD1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DHX32
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KIF1B
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LIG4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PALB2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PCM1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SDHA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
73
|
13
|
1471
|
1074
|
63
|
0 |
0 |
2694
|
All of Us Research Program, National Institutes of Health
|
7
|
4
|
361
|
177
|
4
|
0 |
0 |
553
|
Fulgent Genetics, Fulgent Genetics
|
9
|
1
|
144
|
63
|
2
|
0 |
0 |
219
|
Counsyl
|
7
|
2
|
84
|
45
|
6
|
0 |
0 |
144
|
Myriad Genetics, Inc.
|
21
|
5
|
20
|
43
|
16
|
0 |
0 |
105
|
Mendelics
|
2
|
0 |
54
|
13
|
10
|
0 |
0 |
79
|
Database of Curated Mutations (DoCM)
|
19
|
39
|
0 |
0 |
0 |
0 |
1
|
58
|
Color Diagnostics, LLC DBA Color Health
|
3
|
3
|
8
|
17
|
16
|
0 |
0 |
47
|
OMIM
|
42
|
0 |
1
|
0 |
0 |
1
|
0 |
44
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
4
|
0 |
2
|
12
|
21
|
0 |
0 |
39
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
1
|
29
|
2
|
0 |
0 |
0 |
32
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
5
|
0 |
9
|
0 |
0 |
16
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
0 |
2
|
0 |
1
|
0 |
0 |
15
|
Baylor Genetics
|
1
|
2
|
11
|
0 |
0 |
0 |
0 |
14
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
7
|
2
|
3
|
1
|
0 |
0 |
0 |
13
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
0 |
5
|
0 |
0 |
0 |
0 |
9
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
4
|
1
|
2
|
0 |
0 |
0 |
0 |
7
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
5
|
1
|
0 |
0 |
0 |
7
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
0 |
1
|
2
|
0 |
0 |
0 |
6
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
5
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
3DMed Clinical Laboratory Inc
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals
|
0 |
1
|
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 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
University Health Network, Princess Margaret Cancer Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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