ClinVar Miner

Variants studied for EEC syndrome and related syndrome

Included ClinVar conditions (7):
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
44 9 31 33 12 1 130

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 not provided total
FGFR2 10 3 23 30 10 0 76
TP63 22 0 0 0 0 0 22
FGF10 4 6 5 3 2 0 20
FGFR3 8 0 3 0 0 1 12

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 26 33 12 0 71
OMIM 24 0 0 0 0 0 24
Fulgent Genetics 13 1 4 0 0 0 18
Center for Human Genetics, Inc 1 8 1 0 0 0 10
GeneReviews 7 0 0 0 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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