ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6792C>T (p.Pro2264=)

gnomAD frequency: 0.00003  dbSNP: rs778726288
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
Athena Diagnostics Inc RCV000710573 SCV000840815 likely benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001398411 SCV001600181 likely benign KBG syndrome 2018-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892572 SCV004715264 likely benign ANKRD11-related condition 2021-05-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.