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 | 0 | 0 | 0 | 1 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | total |
---|---|---|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 1 |