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 |
|---|---|---|---|---|---|
| 21 | 17 | 8 | 1 | 4 | 48 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SMPD1 | 19 | 17 | 8 | 1 | 4 | 46 |
| APBB1, SMPD1 | 2 | 0 | 0 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Counsyl | 6 | 4 | 1 | 0 | 0 | 11 |
| Genome-Nilou Lab | 1 | 1 | 4 | 1 | 4 | 11 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 5 | 3 | 0 | 0 | 0 | 8 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS | 1 | 6 | 0 | 0 | 0 | 7 |
| Baylor Genetics | 1 | 0 | 3 | 0 | 0 | 4 |
| Centogene AG - the Rare Disease Company | 2 | 0 | 1 | 0 | 0 | 3 |
| 3billion | 2 | 1 | 0 | 0 | 0 | 3 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 2 | 1 | 0 | 0 | 0 | 3 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratorio de Medicina Genomica, Hospital General de Culiacan | 1 | 0 | 0 | 0 | 0 | 1 |
| Pathology and Clinical Laboratory Medicine, King Fahad Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| DASA | 0 | 1 | 0 | 0 | 0 | 1 |
| Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital | 0 | 1 | 0 | 0 | 0 | 1 |