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 |
---|---|---|---|---|---|---|
8 | 1 | 4 | 3 | 1 | 1 | 18 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
Baylor Genetics | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 1 | 2 | 0 | 0 | 3 |
OMIM | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
Mendelics | 0 | 0 | 0 | 1 | 1 | 0 | 2 |
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
Department of Medical Genetics, Oslo University Hospital | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 1 | 1 |