ClinVar Miner

Variants studied for Birt-Hogg-Dube syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
325 51 1014 764 71 9 2173

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLCN 323 51 1012 764 71 9 2169
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
PKD2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 250 25 952 756 33 0 2016
Illumina Laboratory Services, Illumina 0 0 38 5 47 0 90
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine 85 0 0 0 0 0 85
Baylor Genetics 6 2 65 0 0 0 73
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 41 4 12 1 2 0 60
Myriad Genetics, Inc. 44 11 0 1 3 0 59
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 6 11 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 3 0 0 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 10 0 0 0 11
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
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Otogenetics 0 0 1 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
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1

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