ClinVar Miner

Variants studied for FGFR3-related chondrodysplasia

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 1 6 0 0 1 50

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
FGFR3 42 1 6 1 48
​intergenic 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance not provided total
GeneReviews 34 0 0 0 34
OMIM 29 0 0 0 29
Fulgent Genetics 6 0 3 0 9
Baylor Miraca Genetics Laboratories, 6 0 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 1
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 1

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