ClinVar Miner

Variants studied for Pfeiffer syndrome

Coded as:
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
20 4 2 5 0 30

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FGFR2 19 4 2 4 28
FGFR1 1 0 0 1 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 12 4 0 0 16
OMIM 13 0 0 0 13
Illumina Clinical Services Laboratory,Illumina 0 0 2 5 7
Baylor Genetics 1 0 0 0 1
Genetic Services Laboratory,University of Chicago 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 1

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