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 | association | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 63 | 7 | 5 | 1 | 76 |
Condition and significance breakdown #
Total conditions: 5
| Condition | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|
| not specified | 52 | 2 | 0 | 0 | 54 |
| Increased muscle glycogen content | 10 | 0 | 0 | 0 | 10 |
| PRKAG3-related disorder | 1 | 3 | 3 | 0 | 7 |
| not provided | 0 | 3 | 2 | 0 | 5 |
| SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|
| Ambry Genetics | 52 | 2 | 0 | 0 | 54 |
| ClinVar Staff, National Center for Biotechnology Information (NCBI) | 10 | 0 | 0 | 0 | 10 |
| PreventionGenetics, part of Exact Sciences | 0 | 3 | 3 | 0 | 6 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 1 | 2 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 2 | 0 | 0 | 2 |
| OMIM | 0 | 0 | 0 | 1 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 0 | 1 |