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 |
affects |
other |
not provided |
total |
147
|
113
|
795
|
542
|
45
|
1
|
12
|
1
|
1635
|
Gene and significance breakdown #
Total genes and gene combinations: 43
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
other |
not provided |
total |
SUFU
|
49
|
17
|
521
|
439
|
22
|
0 |
0 |
0 |
1035
|
BRCA2
|
65
|
4
|
69
|
26
|
17
|
0 |
0 |
1
|
182
|
ELP1
|
5
|
13
|
113
|
35
|
1
|
0 |
0 |
0 |
166
|
LOC130004614, SUFU
|
12
|
0 |
71
|
34
|
3
|
0 |
0 |
0 |
117
|
CTNNB1, LOC126806658
|
2
|
21
|
0 |
1
|
0 |
0 |
3
|
0 |
23
|
TP53
|
0 |
20
|
0 |
0 |
0 |
0 |
0 |
0 |
20
|
PTCH2
|
1
|
0 |
6
|
4
|
1
|
0 |
0 |
0 |
12
|
PIK3CA
|
0 |
11
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
GPR161
|
1
|
0 |
8
|
0 |
1
|
0 |
0 |
0 |
10
|
FBXW7
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FGFR1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
IDH1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
CREBBP
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CTNNB1, LOC126806659
|
2
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
4
|
DDX3X
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
0 |
3
|
NRAS
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
CTNNB1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
EP300
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ANK3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARID1A
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARID1B
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ARID2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BAP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CTCF
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DICER1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FOXO3
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LOC100507346, PTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC107303340, VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MYCN, MYCNOS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NONO
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PRKAR1A
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RB1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA4
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
SMO
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TUBB4A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
WRN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
other |
not provided |
total |
Invitae
|
59
|
17
|
534
|
451
|
16
|
0 |
0 |
0 |
1077
|
Fulgent Genetics, Fulgent Genetics
|
67
|
15
|
178
|
69
|
20
|
0 |
0 |
0 |
349
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
62
|
21
|
10
|
0 |
0 |
0 |
93
|
Database of Curated Mutations (DoCM)
|
1
|
78
|
0 |
0 |
0 |
0 |
0 |
0 |
79
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
3
|
3
|
37
|
0 |
0 |
0 |
0 |
0 |
43
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
0 |
12
|
Laboratory of Neurooncology, Almazov National Medical Research Centre
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cancer Genomics Laboratory, Texas Children's Hospital
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Cancer medicine, Gaomi People's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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