ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.918C>T (p.Pro306=)

gnomAD frequency: 0.00008  dbSNP: rs368656084
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038229 SCV000061897 likely benign not specified 2009-10-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724167 SCV000229049 uncertain significance not provided 2014-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088033 SCV000288611 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000724167 SCV000715195 likely benign not provided 2018-05-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001088033 SCV001269899 likely benign Arrhythmogenic right ventricular dysplasia 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Color Diagnostics, LLC DBA Color Health RCV001190658 SCV001358212 likely benign Cardiomyopathy 2019-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371834 SCV002686187 likely benign Cardiovascular phenotype 2021-05-09 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.
All of Us Research Program, National Institutes of Health RCV003996389 SCV004846471 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-14 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.