ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) (rs149240122)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194685 SCV000249159 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000194685 SCV000306314 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000194685 SCV000332398 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Invitae RCV000558256 SCV000651990 benign Joubert syndrome 14 2020-11-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000558256 SCV000746880 uncertain significance Joubert syndrome 14 2017-12-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000558256 SCV001303608 likely benign Joubert syndrome 14 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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.