ClinVar Miner

Variants studied for Kleefstra syndrome 1

Included ClinVar conditions (2):
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
32 9 157 60 16 269

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EHMT1 31 9 155 60 16 266
EHMT1, EHMT1-IT1, LOC651337 0 0 1 0 0 1
NR1I3 0 0 1 0 0 1
PAEP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 115 18 7 144
Illumina Clinical Services Laboratory,Illumina 0 0 41 39 14 94
GeneReviews 16 0 0 0 0 16
Mendelics 2 1 1 3 0 7
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 7
OMIM 4 0 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 1 0 0 4
Baylor Genetics 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
BioTalentum Ltd. 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1

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