Submissions for variant NM_005477.3(HCN4):c.2916C>T (p.Pro972=)

gnomAD frequency: 0.00002  dbSNP: rs559422705

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620448	SCV000737697	likely benign	Cardiovascular phenotype	2016-08-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000647261	SCV000769050	likely benign	Brugada syndrome 8	2024-01-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506504	SCV002811326	likely benign	Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18	2021-10-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533277	SCV004756410	likely benign	HCN4-related disorder	2019-06-06	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).