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 |
---|---|---|---|---|---|
3 | 3 | 13 | 1 | 4 | 24 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 10 | 1 | 2 | 13 |
Baylor Genetics | 0 | 1 | 1 | 0 | 0 | 2 |
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 2 | 0 | 0 | 2 |
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development | 2 | 0 | 0 | 0 | 0 | 2 |
Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 1 | 0 | 0 | 0 | 2 |
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 0 | 1 | 0 | 0 | 0 | 1 |
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini | 0 | 0 | 1 | 0 | 0 | 1 |