ClinVar Miner

Submissions for variant NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)

dbSNP: rs865878627
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002262429 SCV002545138 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing FGF14: PP1:Strong, PVS1:Strong, PM2, PS4:Moderate
OMIM RCV002291320 SCV002583572 pathogenic Spinocerebellar ataxia 27A 2022-12-23 no assertion criteria provided literature only

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.