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 16 146 233 42 4 449

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EZH2 16 16 131 227 41 4 427
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: 27
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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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

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