ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1539-6C>T

gnomAD frequency: 0.00009  dbSNP: rs779028759
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530849 SCV000632852 likely benign Birt-Hogg-Dube syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001545011 SCV001764252 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465699 SCV002760897 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001545011 SCV004219707 benign not provided 2022-09-13 criteria provided, single submitter 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.