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 |
|---|---|---|---|---|---|
| 1 | 0 | 53 | 25 | 12 | 81 |
Condition and significance breakdown #
Total conditions: 10
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 0 | 23 | 13 | 4 | 40 |
| not provided | 0 | 26 | 8 | 3 | 36 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 0 | 12 | 0 | 11 | 23 |
| Autosomal recessive ataxia, Beauce type | 0 | 13 | 2 | 7 | 22 |
| not specified | 0 | 1 | 5 | 4 | 6 |
| Cerebellar ataxia | 0 | 2 | 0 | 1 | 3 |
| Emery-Dreifuss muscular dystrophy | 0 | 2 | 0 | 1 | 3 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | 0 | 0 | 0 | 1 |
| ESR1-related condition | 0 | 0 | 1 | 0 | 1 |
| Rare genetic intellectual disability | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 19
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Invitae | 0 | 23 | 15 | 4 | 42 |
| Illumina Laboratory Services, Illumina | 0 | 15 | 2 | 12 | 25 |
| Revvity Omics, Revvity | 0 | 14 | 0 | 0 | 14 |
| Eurofins Ntd Llc (ga) | 0 | 11 | 1 | 2 | 14 |
| Athena Diagnostics Inc | 0 | 7 | 0 | 3 | 10 |
| GeneDx | 0 | 1 | 3 | 5 | 9 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 2 | 5 | 0 | 7 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 3 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 2 | 3 |
| Clinical Genetics, Academic Medical Center | 0 | 0 | 0 | 2 | 2 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 2 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| Bionano Laboratories | 0 | 1 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 0 | 1 | 0 | 0 | 1 |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | 0 | 0 | 0 | 1 | 1 |
| Suma Genomics | 1 | 0 | 0 | 0 | 1 |