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 | other | not provided | total |
---|---|---|---|---|---|---|---|
13 | 34 | 137 | 42 | 58 | 9 | 1 | 294 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | other | not provided | total |
---|---|---|---|---|---|---|---|---|
KIF1B | 0 | 1 | 125 | 36 | 55 | 0 | 0 | 217 |
ALK | 13 | 9 | 0 | 0 | 0 | 0 | 0 | 22 |
TP53 | 0 | 7 | 0 | 0 | 0 | 0 | 0 | 7 |
PTPN11 | 0 | 6 | 0 | 0 | 0 | 0 | 0 | 6 |
PHOX2B | 0 | 0 | 1 | 2 | 1 | 0 | 0 | 4 |
FGFR1 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
KIF1B, LOC129388447 | 0 | 0 | 2 | 1 | 0 | 0 | 0 | 3 |
MYC | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
PIK3CA | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
BRCA2 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 2 |
KIF1B, LOC126805614 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 2 |
KIF1B, LOC129929363 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
FANCA | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
FANCA, ZNF276 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
FGFR3 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
KIF1B, LOC129388446 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
KIF1B, LOC129929365 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
LOC112577475, RBM15 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
LOC130002133, PTCH1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
MAP2K4 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
MAP2K7 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
MEN1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
MET | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
MYCN, MYCNOS | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
NRAS | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
NTRK2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
PHF6 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
PINK1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
SDHC | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
SMARCA4 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
TSC1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
TSC2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | other | not provided | total |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, Illumina | 0 | 0 | 128 | 40 | 58 | 0 | 0 | 226 |
Database of Curated Mutations (DoCM) | 12 | 32 | 0 | 0 | 0 | 0 | 1 | 45 |
Donald Williams Parsons Laboratory, Baylor College of Medicine | 0 | 0 | 0 | 0 | 0 | 9 | 0 | 9 |
St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 1 | 4 | 0 | 0 | 0 | 0 | 5 |
Mendelics | 0 | 0 | 2 | 1 | 0 | 0 | 0 | 3 |
Department of Pathology and Genetics, University of Gothenburg | 1 | 0 | 2 | 0 | 0 | 0 | 0 | 3 |
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |