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 |
|---|---|---|---|---|---|
| 11 | 34 | 44 | 8 | 9 | 95 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| BCS1L | 11 | 34 | 39 | 8 | 9 | 90 |
| BCS1L, LOC129935609 | 0 | 0 | 5 | 0 | 0 | 5 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Counsyl | 0 | 24 | 17 | 0 | 0 | 41 |
| Natera, Inc. | 5 | 2 | 10 | 7 | 7 | 31 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 18 | 1 | 3 | 22 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 6 | 5 | 0 | 0 | 0 | 11 |
| Genome-Nilou Lab | 0 | 0 | 1 | 0 | 4 | 5 |
| Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) | 0 | 4 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 2 | 1 | 0 | 0 | 0 | 3 |
| Mendelics | 0 | 2 | 0 | 0 | 1 | 3 |
| Myriad Genetics, Inc. | 2 | 0 | 0 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Courtagen Diagnostics Laboratory, Courtagen Life Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 0 | 1 |