Submissions for variant NM_005477.3(HCN4):c.3587G>A (p.Arg1196His)

gnomAD frequency: 0.00191  dbSNP: rs147181577

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180273	SCV000232673	benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000180273	SCV000523307	benign	not specified	2016-09-14	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	RCV000463104	SCV000554480	benign	Brugada syndrome 8	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621437	SCV000736378	benign	Cardiovascular phenotype	2019-03-02	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.
Clinical Genetics, Academic Medical Center	RCV000180273	SCV001924377	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726025	SCV001968311	likely benign	not provided		no assertion criteria provided	clinical testing