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 |
|---|---|---|---|---|---|
| 18 | 3 | 181 | 37 | 63 | 298 |
Gene and significance breakdown #
Total genes and gene combinations: 7
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ABCA1 | 17 | 3 | 92 | 23 | 41 | 172 |
| ABCA1, NIPSNAP3B | 1 | 0 | 75 | 13 | 18 | 107 |
| ABCA1, LOC105376196 | 0 | 0 | 10 | 0 | 2 | 12 |
| ABCA1, LOC105376196, LOC130002275 | 0 | 0 | 2 | 0 | 2 | 4 |
| ABCA1, LOC105376196, LOC130002274 | 0 | 0 | 1 | 0 | 0 | 1 |
| ABCA1, LOC121331340 | 0 | 0 | 1 | 0 | 0 | 1 |
| APOA1 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 160 | 34 | 60 | 254 |
| New York Genome Center | 0 | 1 | 18 | 0 | 0 | 19 |
| OMIM | 16 | 0 | 0 | 0 | 0 | 16 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 3 | 2 | 5 |
| Baylor Genetics | 0 | 1 | 3 | 0 | 0 | 4 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 1 | 0 | 0 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomics, Clalit Research Institute, Clalit Health Care | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 0 | 1 | 0 | 1 |