ClinVar Miner

Variants in gene FLCN

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
164 30 347 246 44 21 771

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple fibrofolliculomas 98 15 259 42 24 2 431
Hereditary cancer-predisposing syndrome 65 8 173 113 5 0 364
not provided 73 9 24 149 21 0 264
not specified 11 0 3 47 13 19 85
Spontaneous pneumothorax 0 0 27 19 23 0 69
Pneumothorax, primary spontaneous 10 1 0 0 0 0 11
Multiple fibrofolliculomas; Pneumothorax, primary spontaneous; Chromosome 17, trisomy 17p11 2; Carcinoma of colon; Renal cell carcinoma, nonpapillary 1 1 4 0 0 0 6
Carcinoma of colon 2 0 0 0 0 0 2
Birt-Hogg-Dub syndrome 0 0 1 0 0 0 1
Birt-Hogg-Dubé Syndrome 1 0 0 0 0 0 1
Chromophobe renal cell carcinoma 1 0 0 0 0 0 1
Hereditary renal cancer 0 1 0 0 0 0 1
Pilocytic astrocytoma 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 8 227 164 15 0 489
Ambry Genetics 65 8 172 113 5 0 363
GeneDx 63 9 7 51 3 0 133
Illumina Clinical Services Laboratory,Illumina 0 0 27 20 23 0 70
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 41 4 12 1 2 0 60
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 20 0 4 1 8 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 0 2 4 2 0 20
ITMI 0 0 0 0 0 19 19
OMIM 17 0 0 0 0 0 17
Integrated Genetics/Laboratory Corporation of America 3 1 0 1 6 0 11
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 8 0 2 0 10
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 1 1 6 0 10
PreventionGenetics,PreventionGenetics 0 0 0 3 6 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 2 0 0 9
Mendelics 1 0 3 2 0 0 6
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 0 6
CSER _CC_NCGL, University of Washington 1 0 3 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Medical Genetics,Gazi University 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.