ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.475_477delAGC (rs113614842)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000246493 SCV000227282 benign not specified 2016-10-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246493 SCV000309287 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369147 SCV000397649 uncertain significance Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000369147 SCV000745149 benign Townes-Brocks syndrome 1 2017-05-31 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.