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 |
|---|---|---|---|---|---|
| 29 | 1 | 34 | 2 | 0 | 66 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| EMD | 28 | 1 | 31 | 2 | 62 |
| EMD, FLNA | 0 | 0 | 2 | 0 | 2 |
| ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187 | 1 | 0 | 0 | 0 | 1 |
| ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Invitae | 15 | 0 | 34 | 0 | 49 |
| OMIM | 10 | 0 | 0 | 0 | 10 |
| Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children | 3 | 0 | 0 | 0 | 3 |
| Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen | 0 | 0 | 1 | 2 | 3 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| NeuroMeGen,Hospital Clinico Santiago de Compostela | 0 | 1 | 0 | 0 | 1 |
| Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea | 1 | 0 | 0 | 0 | 1 |