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
82 21 201 74 96 462

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR2 32 8 49 15 37 136
MEGF8 6 1 61 29 33 130
TWIST1 28 8 16 5 3 59
RAB23 9 0 31 12 4 50
FGFR1 5 4 17 8 13 47
BAG2, RAB23 0 0 27 5 6 38
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1 1 0 0 0 0 1
FGFR3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 6 92 49 51 226
Illumina Clinical Services Laboratory,Illumina 0 0 98 24 44 166
OMIM 39 0 0 0 0 39
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 16 5 0 0 0 21
Fulgent Genetics,Fulgent Genetics 8 2 3 0 0 13
Department of Medical Genetics, Oslo University Hospital 6 4 0 0 0 10
Natera, Inc. 2 0 3 3 1 9
Baylor Genetics 3 0 3 0 0 6
GeneReviews 4 0 0 0 0 4
Johns Hopkins Genomics,Johns Hopkins University 3 0 0 0 0 3
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
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Clinical Genomics Program,Stanford Medicine 0 1 0 0 0 1

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