ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1035-13C>T

dbSNP: rs1189037360
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183400 SCV001349118 uncertain significance Cardiomyopathy 2019-09-10 criteria provided, single submitter clinical testing This variant causes a G>A nucleotide substitution at the -13 position of intron 3 of the PKP2 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV003617906 SCV004538482 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-10-28 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.