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 |
---|---|---|---|---|---|
37 | 54 | 157 | 47 | 55 | 345 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
HPS1 | 15 | 16 | 57 | 18 | 21 | 125 |
HPS3 | 7 | 3 | 26 | 10 | 12 | 57 |
HPS4 | 1 | 6 | 25 | 5 | 9 | 45 |
CP, HPS3 | 3 | 6 | 22 | 7 | 6 | 44 |
AP3B1 | 0 | 2 | 9 | 6 | 5 | 22 |
HPS6 | 1 | 11 | 1 | 0 | 0 | 13 |
HPS5 | 2 | 4 | 6 | 0 | 0 | 12 |
DTNBP1 | 1 | 1 | 5 | 0 | 0 | 7 |
BLOC1S6 | 0 | 2 | 2 | 0 | 1 | 5 |
HPS6, LOC130004578 | 4 | 1 | 0 | 0 | 0 | 5 |
BLOC1S3 | 0 | 0 | 2 | 1 | 0 | 3 |
HPS4, LOC130067147 | 0 | 0 | 1 | 0 | 1 | 2 |
AP3D1 | 0 | 1 | 0 | 0 | 0 | 1 |
BLOC1S5 | 1 | 0 | 0 | 0 | 0 | 1 |
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 | 1 | 0 | 0 | 0 | 0 | 1 |
HPS1, LOC130004494 | 0 | 0 | 1 | 0 | 0 | 1 |
HPS1, MIR4685 | 1 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
---|---|---|---|---|---|---|
Natera, Inc. | 14 | 5 | 72 | 31 | 38 | 160 |
Illumina Laboratory Services, Illumina | 0 | 0 | 72 | 16 | 18 | 106 |
Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 9 | 25 | 0 | 0 | 0 | 34 |
Broad Institute Rare Disease Group, Broad Institute | 14 | 7 | 9 | 0 | 0 | 30 |
NIHR Bioresource Rare Diseases, University of Cambridge | 10 | 14 | 3 | 0 | 0 | 27 |
University of Washington Center for Mendelian Genomics, University of Washington | 0 | 6 | 0 | 0 | 0 | 6 |
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 3 | 1 | 0 | 0 | 0 | 4 |
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux | 2 | 0 | 0 | 0 | 0 | 2 |
Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |