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 | drug response | total |
|---|---|---|---|---|---|---|---|
| 0 | 0 | 127 | 27 | 16 | 1 | 5 | 174 |
Condition and significance breakdown #
Total conditions: 6
| Condition | uncertain significance | likely benign | benign | association | drug response | total |
|---|---|---|---|---|---|---|
| not specified | 125 | 9 | 4 | 0 | 0 | 138 |
| not provided | 1 | 11 | 8 | 0 | 0 | 20 |
| NPC1L1-related disorder | 0 | 8 | 4 | 0 | 0 | 12 |
| Statins, attenuated cholesterol lowering by | 0 | 0 | 0 | 0 | 3 | 3 |
| Ezetimibe response | 0 | 0 | 0 | 0 | 2 | 2 |
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 | 1 | 0 | 0 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | uncertain significance | likely benign | benign | association | drug response | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 124 | 8 | 0 | 0 | 0 | 132 |
| PreventionGenetics, part of Exact Sciences | 0 | 8 | 4 | 0 | 0 | 12 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 3 | 8 | 0 | 0 | 11 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 7 | 0 | 0 | 0 | 7 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 1 | 4 | 0 | 0 | 6 |
| OMIM | 0 | 0 | 0 | 1 | 2 | 3 |
| Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital | 0 | 0 | 0 | 0 | 3 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 3 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 0 | 1 |