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 total
13 9 62 54 17 150

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EZH2 13 9 49 49 16 131
NSD1 0 0 12 5 1 18
SUZ12 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 7 42 45 15 111
Illumina Clinical Services Laboratory,Illumina 0 0 14 9 1 24
Genetic Services Laboratory, University of Chicago 3 1 1 0 0 5
OMIM 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Baylor Genetics 0 0 1 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Cincinnati Center for Growth Disorders,Cincinnati Children's Hospital Medical Center 1 0 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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