ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)

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
Baylor Genetics RCV003148533 SCV003835675 uncertain significance Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2022-05-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148531 SCV003835686 uncertain significance Arrhythmogenic right ventricular dysplasia 2 2022-05-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148532 SCV003836473 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-05-29 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.