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 |
---|---|---|---|---|---|---|
38 | 7 | 13 | 2 | 3 | 1 | 63 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
CBR4, PALLD | 0 | 0 | 5 | 2 | 3 | 0 | 10 |
STK11 | 4 | 0 | 6 | 0 | 0 | 0 | 10 |
BRCA2 | 9 | 0 | 0 | 0 | 0 | 0 | 9 |
SMAD4 | 4 | 0 | 1 | 0 | 0 | 0 | 5 |
ATM, C11orf65 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
CHEK2 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
KRAS | 2 | 1 | 0 | 0 | 0 | 1 | 3 |
ACVR1B | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
BRCA1 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
BRIP1 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
TP53 | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
BRCA1, LOC126862571 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
ERCC4 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
FANCE | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
FANCG | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
HOXB13 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
NBN | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
PALB2 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
PALLD | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
POLD1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
RBBP8 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
CZECANCA consortium | 24 | 5 | 0 | 0 | 0 | 0 | 29 |
OMIM | 13 | 0 | 0 | 0 | 0 | 0 | 13 |
Illumina Laboratory Services, Illumina | 0 | 0 | 6 | 2 | 3 | 0 | 11 |
Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 4 | 0 | 0 | 0 | 5 |
Baylor Genetics | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
Database of Curated Mutations (DoCM) | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Laboratory for Clinical Genomics and Advanced Technology, Dartmouth-Hitchcock Medical Center | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Human Genetics Bochum, Ruhr University Bochum | 0 | 1 | 0 | 0 | 0 | 0 | 1 |