ClinVar Miner

Variants studied for EEC syndrome and related syndrome

Included ClinVar conditions (8):
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
47 11 55 13 40 1 167

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TP63 23 2 43 7 39 0 114
FGFR2 11 3 3 4 0 0 21
FGF10 4 6 2 1 0 0 13
FGFR3 9 0 3 0 0 1 13
LOC111162620, TP63 0 0 4 0 1 0 5
LOC111162621, TP63 0 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 not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 49 11 40 0 100
OMIM 24 0 0 0 0 0 24
Fulgent Genetics,Fulgent Genetics 13 1 4 0 0 0 18
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 8 1 0 0 0 10
GeneReviews 7 0 0 0 0 0 7
Mendelics 0 0 1 2 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Baylor Genetics 1 0 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
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dental Genetics Laboratory,Seoul National University School of Dentistry 1 0 0 0 0 0 1

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