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 |
403
|
322
|
1928
|
1170
|
76
|
12
|
3806
|
Gene and significance breakdown #
Total genes and gene combinations: 51
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
SDHA
|
159
|
87
|
1246
|
808
|
53
|
9
|
2301
|
SDHB
|
167
|
66
|
511
|
318
|
20
|
1
|
1054
|
TP53
|
55
|
93
|
76
|
5
|
2
|
0 |
219
|
SDHAF2
|
4
|
12
|
42
|
4
|
1
|
2
|
63
|
LOC129929542, SDHB
|
6
|
1
|
27
|
26
|
0 |
0 |
60
|
PIK3CA
|
0 |
14
|
1
|
0 |
0 |
0 |
15
|
LOC129929541, SDHB
|
3
|
0 |
1
|
9
|
0 |
0 |
13
|
CTNNB1, LOC126806658
|
0 |
11
|
0 |
0 |
0 |
0 |
11
|
FBXW7
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
IDH1
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
NRAS
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
CREBBP
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
LOC129929541, LOC129929542, SDHB
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
BCOR
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
BRAF
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
GNAS
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
HRAS, LRRC56
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
SF3B1
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
ATRX
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
BAP1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
LOC129929542, LOC129929543, SDHB
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
NOTCH1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ALK
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARID1B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARID2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CDKN2C, FAF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHEK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CTNNB1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FGFR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FUS, TFCP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
H3-3A
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
INSL6, JAK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
JAK3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KMT2A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KRAS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129929542, LOC129929543, PADI2, SDHB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MECOM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MLH1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MYB, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYBL1, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RAD52
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SDHD
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SMARCA4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SMARCB1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
STAT3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ZMYND11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
311
|
99
|
1754
|
1144
|
66
|
0 |
3374
|
Baylor Genetics
|
47
|
41
|
114
|
0 |
0 |
0 |
202
|
Myriad Genetics, Inc.
|
94
|
41
|
35
|
9
|
3
|
0 |
182
|
Fulgent Genetics, Fulgent Genetics
|
22
|
11
|
67
|
16
|
2
|
0 |
118
|
Database of Curated Mutations (DoCM)
|
0 |
100
|
0 |
0 |
0 |
0 |
100
|
Counsyl
|
2
|
7
|
50
|
13
|
2
|
0 |
74
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
3
|
0 |
13
|
33
|
0 |
50
|
Genome Sciences Centre, British Columbia Cancer Agency
|
3
|
6
|
21
|
0 |
0 |
0 |
30
|
Color Diagnostics, LLC DBA Color Health
|
10
|
4
|
1
|
4
|
11
|
0 |
30
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
21
|
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
|
0 |
19
|
0 |
0 |
0 |
0 |
19
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
0 |
11
|
0 |
0 |
0 |
13
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
8
|
1
|
1
|
0 |
0 |
0 |
10
|
MGZ Medical Genetics Center
|
7
|
1
|
0 |
0 |
0 |
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
3
|
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
1
|
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
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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