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 | not provided | total |
|---|---|---|---|---|---|---|
| 65 | 31 | 1664 | 1523 | 149 | 21 | 3402 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| COL12A1 | 63 | 30 | 1612 | 1487 | 144 | 20 | 3306 |
| COL12A1, LOC126859712 | 1 | 0 | 47 | 34 | 5 | 1 | 87 |
| COL12A1, LOC129996730 | 1 | 1 | 4 | 2 | 0 | 0 | 8 |
| COL12A1, COX7A2, FILIP1, IMPG1, MYO6, SENP6, TMEM30A | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 65 | 28 | 1641 | 1516 | 149 | 0 | 3399 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 34 | 13 | 0 | 0 | 48 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 15 | 15 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 6 | 6 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 3 | 1 | 0 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| New York Genome Center | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology | 0 | 1 | 0 | 0 | 0 | 0 | 1 |