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
203 41 562 289 64 21 1063

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Multiple fibrofolliculomas 148 22 491 202 60 2 899
Hereditary cancer-predisposing syndrome 66 7 169 117 5 0 364
not provided 78 10 27 55 9 0 175
Pneumothorax, primary spontaneous 11 1 56 12 23 0 103
not specified 10 0 2 47 13 19 84
none provided 2 1 2 2 2 0 9
Multiple fibrofolliculomas; Pneumothorax, primary spontaneous; Potocki-Lupski syndrome; Carcinoma of colon; Renal cell carcinoma, nonpapillary 1 1 4 0 0 0 6
Spontaneous pneumothorax 0 0 4 0 1 0 5
Carcinoma of colon 2 0 0 0 0 0 2
Hereditary breast and ovarian cancer syndrome 0 0 2 0 0 0 2
Potocki-Lupski syndrome 1 0 1 0 0 0 2
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
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 128 13 443 219 18 0 821
Ambry Genetics 66 7 168 117 5 0 363
GeneDx 63 9 7 51 3 0 133
Illumina Clinical Services Laboratory,Illumina 0 0 58 14 48 0 95
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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 13 1 4 5 4 0 27
ITMI 0 0 0 0 0 19 19
OMIM 17 0 0 0 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 8 6 0 0 15
Integrated Genetics/Laboratory Corporation of America 4 1 0 2 6 0 13
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 11 1 0 0 0 0 12
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 3 0 1 6 0 10
PreventionGenetics, PreventionGenetics 0 0 0 3 6 0 9
Baylor Genetics 1 0 6 0 0 0 7
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 1 0 0 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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
St. Jude 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
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 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.