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 |
---|---|---|
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano | 1 | 1 |