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 |
|---|---|---|---|---|---|---|
| 3 | 2 | 21 | 5 | 12 | 1 | 44 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| EPCAM | 3 | 0 | 21 | 5 | 12 | 1 | 42 |
| EPCAM, MIR559 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| KCCC/NGS Laboratory, Kuwait Cancer Control Center | 0 | 0 | 0 | 3 | 12 | 0 | 15 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 0 | 10 | 1 | 0 | 0 | 11 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 7 | 2 | 0 | 0 | 10 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 2 | 1 | 0 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Counsyl | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 0 | 0 | 1 |