ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2292G>A (p.Pro764=)

gnomAD frequency: 0.00001  dbSNP: rs766291953
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
Color Diagnostics, LLC DBA Color Health RCV001842654 SCV001340601 likely benign Cardiac arrhythmia 2018-12-03 criteria provided, single submitter clinical testing
Invitae RCV001875818 SCV002237285 likely benign Long QT syndrome 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512143 SCV002821860 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing KCNH2: BP4, BP7
Ambry Genetics RCV003293924 SCV004009237 likely benign Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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.