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 |
|---|---|---|---|---|---|
| 68 | 114 | 0 | 0 | 0 | 182 |
Gene and significance breakdown #
Total genes and gene combinations: 26
| Gene or gene combination | pathogenic | likely pathogenic | total |
|---|---|---|---|
| CPLANE1 | 10 | 12 | 22 |
| AHI1 | 11 | 9 | 20 |
| TMEM67 | 12 | 7 | 19 |
| RPGRIP1L | 3 | 12 | 15 |
| INPP5E | 3 | 8 | 11 |
| TMEM231 | 6 | 4 | 10 |
| ARL13B | 0 | 9 | 9 |
| CEP104 | 1 | 7 | 8 |
| NPHP1 | 3 | 5 | 8 |
| TCTN1 | 2 | 6 | 8 |
| TCTN2 | 3 | 5 | 8 |
| KIAA0586 | 4 | 2 | 6 |
| NPHP3, NPHP3-ACAD11 | 1 | 5 | 6 |
| B9D2 | 1 | 4 | 5 |
| KIF14 | 0 | 5 | 5 |
| TMEM237 | 1 | 3 | 4 |
| TCTN3 | 3 | 0 | 3 |
| TMEM138 | 2 | 1 | 3 |
| B9D1 | 0 | 2 | 2 |
| CC2D2A | 1 | 1 | 2 |
| LOC129937586, NPHP3, NPHP3-ACAD11 | 0 | 2 | 2 |
| LOC130004408, TCTN3 | 0 | 2 | 2 |
| CEP104, LOC126805586 | 0 | 1 | 1 |
| CEP290 | 1 | 0 | 1 |
| LRRCC1 | 0 | 1 | 1 |
| NPHP3 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 3
| Submitter | pathogenic | likely pathogenic | total |
|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 65 | 109 | 174 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 3 | 4 | 7 |
| Manipal Hospitals, Manipal Hospital | 0 | 1 | 1 |