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 | affects | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 186 | 33 | 39 | 1 | 251 |
Condition and significance breakdown #
Total conditions: 6
| Condition | uncertain significance | likely benign | benign | affects | total |
|---|---|---|---|---|---|
| Hyperglycinuria | 122 | 21 | 21 | 1 | 164 |
| not specified | 61 | 4 | 0 | 0 | 65 |
| not provided | 10 | 5 | 31 | 0 | 46 |
| Hyperglycinuria; Iminoglycinuria | 18 | 1 | 0 | 0 | 19 |
| SLC6A20-related disorder | 0 | 8 | 7 | 0 | 15 |
| SLC6A20-related Neurodevelopmental Disorder | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | uncertain significance | likely benign | benign | affects | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 117 | 21 | 20 | 0 | 158 |
| Ambry Genetics | 61 | 4 | 0 | 0 | 65 |
| Breakthrough Genomics, Breakthrough Genomics | 6 | 3 | 25 | 0 | 34 |
| GeneDx | 0 | 0 | 24 | 0 | 24 |
| Fulgent Genetics, Fulgent Genetics | 18 | 1 | 0 | 0 | 19 |
| PreventionGenetics, part of Exact Sciences | 0 | 8 | 7 | 0 | 15 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 8 | 0 | 0 | 0 | 8 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 1 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 4 | 0 | 4 |
| OMIM | 0 | 0 | 0 | 1 | 1 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 1 |
| Gharavi Laboratory, Columbia University | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |