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
24 6 125 73 41 248

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
EHMT1 24 6 123 73 41 246
EHMT1, EHMT1-IT1, LOC651337 0 0 1 0 0 1
NR1I3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 87 40 33 163
Illumina Clinical Services Laboratory,Illumina 0 0 41 39 14 94
GeneReviews 16 0 0 0 0 16
Fulgent Genetics 0 0 7 0 0 7
OMIM 4 0 1 0 0 5
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 2 1 0 0 4
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology 1 1 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

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