ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1281C>G (p.Pro427=) (rs372207262)

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
Ambry Genetics RCV000565832 SCV000673405 likely benign Hereditary cancer-predisposing syndrome 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000602340 SCV000728360 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000311957 SCV000400994 uncertain significance Spontaneous pneumothorax 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348103 SCV000400995 uncertain significance Multiple fibrofolliculomas 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000348103 SCV000560333 benign Multiple fibrofolliculomas 2017-10-25 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.