ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1332C>T (p.Ala444=) (rs141283741)

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 RCV000859051 SCV000291430 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228190 SCV000400990 likely benign Multiple fibrofolliculomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296794 SCV000400991 likely benign Spontaneous pneumothorax 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000433262 SCV000534787 likely benign not specified 2016-12-15 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.
Ambry Genetics RCV000564032 SCV000673416 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 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.