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 |
association |
not provided |
total |
38
|
149
|
62
|
14
|
22
|
2
|
3
|
283
|
Gene and significance breakdown #
Total genes and gene combinations: 46
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
NBN
|
7
|
9
|
39
|
10
|
20
|
0 |
1
|
81
|
TP53
|
2
|
55
|
0 |
0 |
0 |
0 |
0 |
57
|
IKZF1
|
1
|
6
|
9
|
0 |
0 |
2
|
0 |
18
|
PAX5
|
1
|
13
|
2
|
0 |
0 |
0 |
0 |
15
|
FBXW7
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
10
|
BRAF
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
7
|
HRAS, LRRC56
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
7
|
GNB1
|
2
|
2
|
0 |
2
|
0 |
0 |
0 |
6
|
SF3B1
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
6
|
ERG
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
NRAS
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
BCR
|
0 |
0 |
3
|
1
|
0 |
0 |
0 |
4
|
CDKN2A
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
4
|
INSL6, JAK2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PTPN11
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
ABL1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
FLT3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
JAK1, LOC126805749
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
LOC126860438, NBN
|
1
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
PLCG2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
XPO1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
ATM
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ATM, C11orf65
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BAX
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FGFR1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
JAK3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC105376032, PAX5
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
SF3B2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
BCL10
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BTK
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CDKN2B, LOC130001608
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CRLF2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSF3R
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNMT3A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ERCC4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ETV6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ETV6, LOC126861452
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL7R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
JAK2, ZBTB20
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KRAS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC107982234, WT1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYD88
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NF1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NOTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NT5C2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
PALB2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
Database of Curated Mutations (DoCM)
|
5
|
113
|
0 |
0 |
0 |
0 |
2
|
120
|
Fulgent Genetics, Fulgent Genetics
|
8
|
6
|
36
|
10
|
2
|
0 |
0 |
62
|
Genomic Diagnostics Laboratory, National Institute of Medical Genomics
|
1
|
22
|
12
|
0 |
0 |
0 |
0 |
35
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
22
|
0 |
0 |
25
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
2
|
7
|
0 |
0 |
0 |
0 |
11
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
5
|
1
|
0 |
0 |
0 |
7
|
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorios de Investigación en Biología Molecular e Inmunología, Universidad Autónoma de Nayarit
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
2
|
University Health Network, Princess Margaret Cancer Centre
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Genomics Laboratory, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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