ClinVar Miner

Variants studied for Weaver syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
16 15 145 233 42 4 447

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EZH2 16 15 130 227 41 4 425
NSD1 0 0 12 5 1 0 18
EZH2, LOC129999534 0 0 1 1 0 0 2
C7orf33, CNTNAP2, CUL1, EZH2 0 0 1 0 0 0 1
SUZ12 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 7 119 224 38 0 393
Illumina Laboratory Services, Illumina 0 0 15 9 1 0 25
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 0 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 1 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
3billion 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.