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

gnomAD frequency: 0.00737  dbSNP: rs148398509

Total submissions: 19

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	RCV000711887	SCV000168804	benign	not provided	2018-11-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27173043, 28104484, 25145519, 25145518, 28254189, 27659478, 28182231, 31481236)
Invitae	RCV000232306	SCV000288904	benign	Brugada syndrome 8	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	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	This alteration is classified as 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.
Athena Diagnostics	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 Laboratory Services, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711887	SCV003799833	benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125353	SCV003928225	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711887	SCV004132794	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	HCN4: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000125353	SCV001740715	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125353	SCV001920219	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711887	SCV001927012	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000125353	SCV001954407	benign	not specified		no assertion criteria provided	clinical testing