ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.6906C>T (p.Thr2302=)

gnomAD frequency: 0.00133  dbSNP: rs139910215
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250960 SCV000319111 likely benign Cardiovascular phenotype 2019-07-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001705388 SCV000525975 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Invitae RCV000462776 SCV000557187 benign Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253335 SCV002525056 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955399 SCV004772220 benign ANK2-related disorder 2019-11-19 criteria provided, single submitter clinical testing This variant is classified as 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.