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 |
|---|---|---|---|---|---|
| 19 | 23 | 217 | 200 | 39 | 467 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SLC5A1 | 19 | 23 | 216 | 200 | 39 | 466 |
| BPIFC, C22orf42, FBXO7, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 11 | 7 | 112 | 187 | 25 | 342 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 75 | 10 | 27 | 112 |
| Fulgent Genetics, Fulgent Genetics | 3 | 12 | 71 | 11 | 1 | 98 |
| Baylor Genetics | 1 | 0 | 4 | 0 | 0 | 5 |
| Mendelics | 3 | 1 | 0 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 2 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 1 | 1 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 1 | 0 | 0 | 2 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 1 | 0 | 0 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Aleixo Muise Laboratory, Hospital For Sick Children | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |