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 |
|---|---|---|---|---|---|---|
| 8 | 7 | 59 | 47 | 12 | 3 | 126 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| CBLIF | 8 | 7 | 59 | 47 | 12 | 3 | 126 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 4 | 3 | 41 | 46 | 12 | 0 | 106 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 21 | 1 | 7 | 0 | 30 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 0 | 6 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| Inserm U 954, Faculté de Médecine de Nancy | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 1 | 0 | 0 | 0 | 0 | 1 |