Submissions for variant NM_005477.3(HCN4):c.2652C>T (p.Pro884=)

gnomAD frequency: 0.00008  dbSNP: rs373814254

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517547	SCV000613591	likely benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528383	SCV000648446	likely benign	Brugada syndrome 8	2024-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002455991	SCV002739434	likely benign	Cardiovascular phenotype	2020-06-24	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.
PreventionGenetics, part of Exact Sciences	RCV004535679	SCV004714934	likely benign	HCN4-related disorder	2022-01-31	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).