ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.800C>T (p.Thr267Met) (rs797044955)

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
Ambry Genetics RCV000190812 SCV000244253 pathogenic Inborn genetic diseases 2013-06-27 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000677366 SCV000807309 uncertain significance Spinocerebellar ataxia 29 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 12-year-old female with cerebellar ataxia with tremor (onset in first year of life), significant motor delays, moderate speech delays, hypoplastic cerebellar vermis
Schule lab,Hertie Institute for Clinical Brain Research RCV000677366 SCV000700188 pathogenic 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.