ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) (rs199698357)

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
Illumina Clinical Services Laboratory,Illumina RCV000363994 SCV000444951 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415780 SCV000493438 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Schule lab,Hertie Institute for Clinical Brain Research RCV000677357 SCV000700179 likely benign Spinocerebellar ataxia 29 2018-02-09 criteria provided, single submitter research

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.