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 |
total |
7
|
4
|
47
|
38
|
6
|
100
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
MPL
|
0 |
1
|
19
|
31
|
1
|
52
|
THPO
|
3
|
1
|
27
|
6
|
5
|
42
|
CALR
|
2
|
0 |
0 |
0 |
0 |
2
|
SH2B3
|
1
|
1
|
1
|
0 |
0 |
2
|
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR
|
0 |
1
|
0 |
0 |
0 |
1
|
CUX2, SH2B3
|
1
|
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
41
|
37
|
6
|
84
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
2
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
1
|
0 |
2
|
INSERM UMR 1170, INSERM
|
0 |
1
|
0 |
0 |
0 |
1
|
Database of Curated Mutations (DoCM)
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics Lab, Policlinico S. Orsola.Malpighi
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
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