ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.962C>G (p.Pro321Arg) (rs12720449)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171758 SCV000055279 likely benign Long QT syndrome 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155365 SCV000205052 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro448Arg in Exon 10 of KCNQ1: This variant is not expected to have clinical sig nificance because it has been identified in 5.8% (7/120) of chromosomes from a p opulation in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs127 20449).
Ambry Genetics RCV000252693 SCV000318865 benign Cardiovascular phenotype 2015-04-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000171758 SCV000370295 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000057578 SCV000555794 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000155365 SCV000604063 benign not specified 2016-02-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000057578 SCV000609938 likely benign not provided 2017-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155365 SCV000861670 benign not specified 2018-06-20 criteria provided, single submitter clinical testing
Color RCV000776057 SCV000910692 benign Arrhythmia 2018-03-19 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057578 SCV000089097 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:10973849;PMID:11997281;PMID:14661677;PMID:14731347;PMID:15051636;PMID:15242738;PMID:16155735;PMID:16487223;PMID:17016049;PMID:17210839;PMID:17597962;PMID:19841300).

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.