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 |
---|---|---|---|---|---|
20 | 4 | 166 | 65 | 104 | 359 |
Gene and significance breakdown #
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Illumina Laboratory Services, Illumina | 0 | 0 | 107 | 23 | 93 | 223 |
Labcorp Genetics (formerly Invitae), Labcorp | 4 | 0 | 60 | 42 | 9 | 115 |
OMIM | 15 | 0 | 0 | 0 | 0 | 15 |
Genome-Nilou Lab | 0 | 0 | 0 | 0 | 9 | 9 |
Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 2 | 3 |
Mendelics | 0 | 0 | 0 | 0 | 2 | 2 |
Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
GeneReviews | 1 | 0 | 0 | 0 | 0 | 1 |
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 0 | 0 | 1 |
3billion | 0 | 1 | 0 | 0 | 0 | 1 |
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 0 | 0 | 0 | 1 |