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 |
|---|---|---|---|---|---|---|
| 182 | 95 | 351 | 570 | 20 | 2 | 1191 |
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 |
|---|---|---|---|---|---|---|---|
| NAGLU | 149 | 83 | 293 | 476 | 20 | 2 | 998 |
| LOC130060903, NAGLU | 33 | 12 | 57 | 94 | 0 | 0 | 192 |
| COASY, HSD17B1, MLX, NAGLU, PSMC3IP | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 179 | 61 | 347 | 570 | 19 | 0 | 1176 |
| Fulgent Genetics, Fulgent Genetics | 20 | 37 | 8 | 0 | 0 | 0 | 65 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 2 | 1 | 2 | 0 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 1 | 0 | 3 | 0 | 4 |
| ClinVar Staff, National Center for Biotechnology Information (NCBI) | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Human Genetics Bochum, Ruhr University Bochum | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 0 | 1 |