ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) (rs148398509)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
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 RCV000125353 SCV000050819 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000125353 SCV000168804 benign not specified 2014-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000232306 SCV000288904 benign Brugada syndrome 8 2020-11-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000125353 SCV000341478 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000232306 SCV000679911 benign Brugada syndrome 8 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577973 SCV000679912 benign Left ventricular noncompaction 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578029 SCV000679913 benign Sick sinus syndrome 2, autosomal dominant 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620859 SCV000735350 benign Cardiovascular phenotype 2015-11-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000711887 SCV000842298 benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852708 SCV000995422 benign Atrial fibrillation; Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 2019-04-17 criteria provided, single submitter clinical testing
Mendelics RCV000232306 SCV001139653 benign Brugada syndrome 8 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000578029 SCV001277259 likely benign Sick sinus syndrome 2, autosomal dominant 2017-04-28 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000125353 SCV001740715 benign not specified no assertion criteria provided 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.