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 | total |
|---|---|---|---|---|---|
| 11 | 6 | 0 | 1 | 0 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 14
| Gene or gene combination | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| QRSL1 | 4 | 0 | 0 | 4 |
| GATB | 2 | 0 | 0 | 2 |
| ALDH1A3 | 1 | 0 | 0 | 1 |
| CARMIL2 | 1 | 0 | 0 | 1 |
| CD55 | 1 | 0 | 0 | 1 |
| CDKN1C | 0 | 1 | 0 | 1 |
| GATC, LOC112163529 | 1 | 0 | 0 | 1 |
| HNRNPK | 0 | 1 | 0 | 1 |
| KDM2B | 0 | 0 | 1 | 1 |
| MORC2 | 0 | 1 | 0 | 1 |
| MYH7 | 0 | 1 | 0 | 1 |
| PCNT | 1 | 0 | 0 | 1 |
| SENP7 | 0 | 1 | 0 | 1 |
| TNNC1 | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 12
| Condition | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| Cardiomyopathy, mitochondrial | 7 | 0 | 0 | 7 |
| Au-Kline syndrome | 0 | 1 | 0 | 1 |
| Beckwith-Wiedemann syndrome | 0 | 1 | 0 | 1 |
| Charcot-Marie-Tooth disease axonal type 2Z | 0 | 1 | 0 | 1 |
| Chronic colitis; Combined immunodeficiency | 1 | 0 | 0 | 1 |
| Dilated cardiomyopathy 1S | 0 | 1 | 0 | 1 |
| Dilated cardiomyopathy 1Z | 0 | 1 | 0 | 1 |
| Global developmental delay; Microcephaly | 0 | 0 | 1 | 1 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | 0 | 0 | 1 |
| Protein-losing enteropathy | 1 | 0 | 0 | 1 |
| arthrogryposis multiplex congenita with neutropenia and early respiratory failure | 0 | 1 | 0 | 1 |
| not provided | 1 | 0 | 0 | 1 |