Submissions for variant NM_005477.3(HCN4):c.2979G>A (p.Thr993=)

gnomAD frequency: 0.00796  dbSNP: rs75307879

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180281	SCV000232684	benign	not specified	2014-08-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000180281	SCV000513219	benign	not specified	2015-04-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461891	SCV000554500	benign	Brugada syndrome 8	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620288	SCV000735109	benign	Cardiovascular phenotype	2015-08-04	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736623	SCV004564152	benign	not provided	2022-12-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000180281	SCV005077327	benign	not specified	2024-04-08	criteria provided, single submitter	clinical testing