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 |
---|---|---|---|---|---|---|
13 | 3 | 14 | 11 | 1 | 1 | 42 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
---|---|---|---|---|---|---|---|
Fulgent Genetics, Fulgent Genetics | 0 | 0 | 9 | 11 | 1 | 0 | 21 |
OMIM | 10 | 0 | 0 | 0 | 0 | 0 | 10 |
Revvity Omics, Revvity | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 2 | 0 | 1 | 0 | 0 | 0 | 3 |
Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Mendelics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
Daryl Scott Lab, Baylor College of Medicine | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
DECIPHERD-UDD, Universidad del Desarrollo | 0 | 0 | 1 | 0 | 0 | 0 | 1 |