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 |
|---|---|---|---|---|---|---|
| 88 | 9 | 45 | 32 | 15 | 20 | 205 |
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| KRIT1 | 48 | 5 | 23 | 24 | 9 | 3 | 108 |
| PDCD10 | 17 | 1 | 13 | 2 | 0 | 9 | 42 |
| CCM2 | 21 | 3 | 4 | 1 | 4 | 8 | 41 |
| ANKIB1, KRIT1, LOC113748416 | 0 | 0 | 0 | 2 | 2 | 0 | 4 |
| KRIT1, LOC113748416 | 0 | 0 | 3 | 1 | 0 | 0 | 4 |
| PDCD10, SERPINI1 | 0 | 0 | 1 | 2 | 0 | 0 | 3 |
| ANKIB1, KRIT1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CCM2, LOC100128364, NACAD | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| KRIT1, MIR1285-1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Invitae | 58 | 5 | 15 | 4 | 2 | 0 | 83 |
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 30 | 30 | 8 | 0 | 68 |
| OMIM | 26 | 0 | 0 | 0 | 0 | 0 | 26 |
| Institute of Human Genetics Greifswald, Research Division,University Medicine Greifswald | 2 | 0 | 0 | 0 | 0 | 20 | 22 |
| Genome Diagnostics Laboratory,University Medical Center Utrecht | 2 | 0 | 0 | 1 | 5 | 0 | 8 |
| DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center | 2 | 0 | 0 | 0 | 6 | 0 | 8 |
| GeneReviews | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
| Hehr Laboratory,Center for Human Genetics - University of Regensburg | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Fulgent Genetics,Fulgent Genetics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |