ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.6977C>T (p.Thr2326Ile) (rs200344386)

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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488172 SCV000575416 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000488172 SCV001688144 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000488172 SCV001770799 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000488172 SCV001799115 likely benign not provided 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.