ClinVar Miner

Variants studied for acrocephalosyndactyly

Included ClinVar conditions (14):
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
63 13 119 93 48 325

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 23 30 10 99
FGFR1 3 2 37 41 13 90
MEGF8 6 0 26 15 21 68
TWIST1 16 4 9 2 3 34
RAB23 5 0 17 3 1 24
BAG2, RAB23 0 0 7 2 0 9
FGFR3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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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 14 4 39 23 33 113
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 8 2 3 0 0 13
Baylor Miraca Genetics Laboratories, 3 0 2 0 0 5
GeneReviews 4 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 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
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 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
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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