ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala)

gnomAD frequency: 0.00080  dbSNP: rs151312899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228627 SCV000291433 benign Birt-Hogg-Dube syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568886 SCV000673414 benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001697686 SCV000725826 likely benign not provided 2021-03-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28873162)
Sema4, Sema4 RCV000568886 SCV002530118 likely benign Hereditary cancer-predisposing syndrome 2021-05-20 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002479934 SCV002774790 benign not specified 2021-08-30 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.