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 |
|---|---|---|---|---|---|---|
| 22 | 91 | 544 | 609 | 98 | 8 | 1368 |
Gene and significance breakdown #
Total genes and gene combinations: 21
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| TTN | 19 | 76 | 480 | 536 | 89 | 6 | 1202 |
| LOC126806425, TTN | 1 | 2 | 5 | 9 | 0 | 0 | 17 |
| LOC126806423, TTN | 0 | 3 | 8 | 3 | 0 | 0 | 14 |
| LOC126806424, TTN | 1 | 0 | 7 | 6 | 0 | 0 | 14 |
| LOC126806432, TTN | 0 | 0 | 8 | 5 | 1 | 0 | 14 |
| LOC126806422, TTN | 0 | 0 | 0 | 7 | 3 | 1 | 11 |
| LOC126806427, TTN | 0 | 1 | 5 | 4 | 1 | 0 | 11 |
| LOC126806430, TTN | 0 | 0 | 2 | 7 | 1 | 1 | 11 |
| LOC126806431, TTN | 0 | 2 | 3 | 4 | 1 | 0 | 10 |
| LOC101927055, TTN | 0 | 2 | 3 | 3 | 0 | 0 | 8 |
| LOC126806420, TTN | 0 | 1 | 1 | 5 | 1 | 0 | 8 |
| LOC126806421, TTN | 0 | 0 | 3 | 4 | 0 | 0 | 7 |
| LOC126806428, TTN | 1 | 0 | 2 | 4 | 0 | 0 | 7 |
| LOC126806429, TTN | 0 | 0 | 2 | 5 | 0 | 0 | 7 |
| LOC129935183, TTN | 0 | 1 | 4 | 2 | 0 | 0 | 7 |
| LOC126806426, TTN | 0 | 0 | 3 | 2 | 1 | 0 | 6 |
| LOC126806433, TTN | 0 | 1 | 5 | 0 | 0 | 0 | 6 |
| LOC129935182, TTN | 0 | 2 | 2 | 1 | 0 | 0 | 5 |
| LOC129935184, TTN | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LOC129935186, TTN | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| PLEKHA3, TTN | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| PreventionGenetics, part of Exact Sciences | 12 | 71 | 530 | 609 | 98 | 0 | 1320 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 3 | 11 | 0 | 0 | 0 | 0 | 14 |
| Daryl Scott Lab, Baylor College of Medicine | 2 | 0 | 6 | 0 | 0 | 0 | 8 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 6 | 0 | 0 | 0 | 0 | 7 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 5 | 0 | 0 | 0 | 6 |
| Illumina Laboratory Services, Illumina | 3 | 0 | 3 | 0 | 0 | 0 | 6 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 5 | 5 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Dasa | 0 | 1 | 0 | 0 | 0 | 0 | 1 |