ClinVar Miner

Variants studied for Birt-Hogg-Dube syndrome 1

Included ClinVar conditions (5):
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
302 54 881 657 78 8 1869

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 not provided total
FLCN 300 54 880 657 78 8 1866
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TNFRSF13B, TOM1L2, TOP3A 0 0 1 0 0 0 1
FLCN, LOC130060370 1 0 0 0 0 0 1
FLCN, PLD6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 219 22 800 613 33 0 1687
Baylor Genetics 11 2 112 0 0 0 125
Myriad Genetics, Inc. 54 13 0 45 10 0 122
Fulgent Genetics, Fulgent Genetics 8 4 70 26 2 0 110
Illumina Laboratory Services, Illumina 0 0 42 5 48 0 95
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine 85 0 0 0 0 0 85
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 41 4 12 1 2 0 60
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 6 11 0 17
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 10 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
MGZ Medical Genetics Center 3 4 0 0 0 0 7
Mendelics 1 0 2 2 1 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 1 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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