ClinVar Miner

Variants studied for Kleefstra syndrome

Included ClinVar conditions (5):
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
39 15 159 60 16 281

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 total
EHMT1 31 9 155 60 16 266
KMT2C 7 6 2 0 0 12
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: 23
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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
OMIM 9 0 1 0 0 10
Mendelics 2 1 2 3 0 8
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 7
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 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 3
Undiagnosed Diseases Network,NIH 0 2 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
BioTalentum Ltd. 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 1

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