Submissions for variant NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)

gnomAD frequency: 0.00084  dbSNP: rs201418838

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726615	SCV000345835	uncertain significance	not provided	2016-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000726615	SCV000529067	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086425	SCV000554482	likely benign	Brugada syndrome 8	2025-01-22	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852706	SCV000995420	benign	Cardiomyopathy	2019-06-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436127	SCV002754223	likely benign	Cardiovascular phenotype	2022-09-14	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.
Clinical Genetics, Academic Medical Center	RCV000726615	SCV001921928	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726615	SCV001975238	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543148	SCV004770478	likely benign	HCN4-related disorder	2023-11-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).