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 | association | total |
|---|---|---|---|---|---|---|
| 1 | 0 | 76 | 7 | 7 | 4 | 92 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 72 | 2 | 0 | 0 | 74 |
| not provided | 0 | 1 | 5 | 7 | 0 | 13 |
| Chronic obstructive pulmonary disease | 0 | 0 | 0 | 0 | 4 | 4 |
| Combined pulmonary fibrosis-emphysema syndrome | 0 | 1 | 0 | 0 | 0 | 1 |
| FAM13A-related pulmonary fibrosis | 0 | 1 | 0 | 0 | 0 | 1 |
| Interstitial lung disease 2 | 0 | 0 | 0 | 0 | 1 | 1 |
| Lung adenocarcinoma | 0 | 1 | 0 | 0 | 0 | 1 |
| Squamous cell carcinoma | 1 | 0 | 0 | 0 | 0 | 1 |
| Susceptibility to severe coronavirus disease (COVID-19) | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 72 | 2 | 0 | 0 | 74 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 3 | 3 | 0 | 6 |
| HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas | 0 | 1 | 0 | 0 | 4 | 4 |
| GeneDx | 0 | 0 | 0 | 3 | 0 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 3 | 0 | 3 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 1 | 1 | 0 | 0 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 1 | 1 | 0 | 2 |
| Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research | 1 | 1 | 0 | 0 | 0 | 2 |
| University of Washington Department of Laboratory Medicine, University of Washington | 0 | 1 | 0 | 0 | 0 | 1 |