ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)

gnomAD frequency: 0.00051  dbSNP: rs146085234
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
GeneDx RCV001722561 SCV000714474 likely benign not provided 2019-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860598 SCV001000700 benign Long QT syndrome 2024-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253520 SCV002525070 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420588 SCV002676485 likely benign Cardiovascular phenotype 2017-12-22 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.
Fulgent Genetics, Fulgent Genetics RCV002253520 SCV002802329 likely benign Cardiac arrhythmia, ankyrin-B-related 2021-08-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155247 SCV003844622 benign not specified 2023-02-13 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.