ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1538+14T>G

gnomAD frequency: 0.00721  dbSNP: rs112111994
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153244 SCV000202718 benign not specified 2014-03-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269445 SCV000400982 likely benign Familial spontaneous pneumothorax 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000324507 SCV000400983 benign Birt-Hogg-Dube syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001610463 SCV001837770 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32171268)
Invitae RCV000324507 SCV002403338 benign Birt-Hogg-Dube syndrome 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255306 SCV002530123 benign Hereditary cancer-predisposing syndrome 2021-04-29 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000324507 SCV004015733 benign Birt-Hogg-Dube syndrome 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000153244 SCV004026702 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001610463 SCV004142318 benign not provided 2023-06-01 criteria provided, single submitter clinical testing FLCN: BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000153244 SCV001808542 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153244 SCV001966637 benign not specified no assertion criteria provided clinical testing

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.