ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) (rs145906515)

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
Ambry Genetics RCV000719512 SCV000850380 benign Autism spectrum disorder 2018-07-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001085144 SCV001005779 benign KBG syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000864899 SCV001143023 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000864899 SCV001800678 likely benign not provided no assertion criteria provided 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.