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 | association | other | total |
---|---|---|---|---|---|---|---|
19 | 3 | 11 | 5 | 2 | 9 | 3 | 52 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | association | other | total |
---|---|---|---|---|---|---|---|---|
TP53 | 17 | 3 | 6 | 5 | 2 | 0 | 0 | 33 |
CLDN14 | 0 | 0 | 2 | 0 | 0 | 2 | 0 | 4 |
EPHB4 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
KEL | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
PCSK7 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
FOXO3 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
GLI2 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
KAT6A | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
KMT2D | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
LOC107303340, VHL | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
NF2 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
NSD1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
SMARCA2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
VHL | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | association | other | total |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, Fulgent Genetics | 13 | 2 | 6 | 5 | 2 | 0 | 0 | 28 |
Yale Center for Mendelian Genomics, Yale University | 0 | 0 | 0 | 0 | 0 | 9 | 0 | 9 |
Donald Williams Parsons Laboratory, Baylor College of Medicine | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
Michigan Center for Translational Pathology, University of Michigan | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
Cancer medicine, Gaomi People's Hospital | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Suma Genomics | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |