ClinVar Miner

Variants studied for acrocephalosyndactyly

Included ClinVar conditions (13):
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
69 16 134 77 22 314

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR2 32 7 24 30 10 100
FGFR1 3 3 39 39 5 89
MEGF8 6 0 35 3 7 51
TWIST1 21 6 12 1 0 40
RAB23 6 0 17 2 0 24
BAG2, RAB23 0 0 7 2 0 9
FGFR3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 74 70 15 159
Invitae 18 6 52 7 7 90
OMIM 39 0 0 0 0 39
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 16 5 0 0 0 21
Fulgent Genetics,Fulgent Genetics 8 2 3 0 0 13
Baylor Genetics 3 0 3 0 0 6
GeneReviews 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 2 0 0 0 0 2
Klinisk genetik och genomik Research,Gothenburg University 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 0 1 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 1

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