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 |
|---|---|---|---|---|---|
| 7 | 3 | 511 | 627 | 97 | 1198 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| DNMT1 | 5 | 3 | 482 | 564 | 86 | 1095 |
| DNMT1, LOC126862853 | 1 | 0 | 12 | 41 | 8 | 60 |
| DNMT1, LOC130063472 | 0 | 0 | 13 | 13 | 1 | 27 |
| DNMT1, LOC107080555 | 0 | 0 | 3 | 9 | 2 | 14 |
| DNMT1, SHFL | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 4 | 1 | 465 | 618 | 67 | 1155 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 31 | 17 | 53 | 101 |
| Inherited Neuropathy Consortium Ii, University Of Miami | 0 | 0 | 15 | 0 | 0 | 15 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 2 | 1 | 0 | 3 |
| Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences | 1 | 1 | 0 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |