ClinVar Miner

Variants studied for Pfeiffer syndrome

Included ClinVar conditions (9):
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
61 29 228 271 35 607

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR1 31 19 198 249 34 518
FGFR2 29 10 29 21 1 86
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 1 0 1 0 0 2
FGFR1, LOC102723716 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 32 16 181 241 34 504
Fulgent Genetics, Fulgent Genetics 10 7 65 42 3 127
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 12 4 0 0 0 16
OMIM 14 0 0 0 0 14
Illumina Laboratory Services, Illumina 0 0 2 5 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 1 1 0 5
3billion 4 0 0 0 0 4
Baylor Genetics 1 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 1

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