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
147 25 237 154 41 21 565

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 80 12 196 111 35 2 423
Hereditary cancer-predisposing syndrome 58 3 76 56 4 0 197
not provided 74 9 20 3 9 0 113
not specified 5 0 3 47 12 19 79
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: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 6 166 91 13 0 330
Ambry Genetics 58 3 76 56 4 0 197
GeneDx 63 9 7 44 3 0 126
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
ITMI 0 0 0 0 0 19 19
OMIM 17 0 0 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 0 2 3 1 0 13
Integrated Genetics/Laboratory Corporation of America 3 1 0 1 6 0 11
Biesecker Lab/Human Development 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 0 0 0 3 6 0 9
Fulgent Genetics 1 1 4 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 1 0 3 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
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
UCLA Clinical Genomics Center, UCLA 1 0 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

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.