ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) (rs145351367)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761762 SCV000891950 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205190 SCV000375046 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205190 SCV000259893 likely benign Charcot-Marie-Tooth disease type 4 2016-11-14 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.