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 |
|---|---|---|---|---|---|---|
| 5 | 5 | 45 | 15 | 8 | 1 | 70 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| MPDU1 | 5 | 5 | 43 | 15 | 8 | 1 | 68 |
| LOC100996842, MPDU1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MPDU1, SOX15 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Invitae | 0 | 0 | 18 | 14 | 7 | 0 | 39 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 23 | 1 | 4 | 0 | 28 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 0 | 5 |
| Baylor Genetics | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Suma Genomics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |