Submissions for variant NM_005477.3(HCN4):c.621C>G (p.Arg207=)

gnomAD frequency: 0.00012  dbSNP: rs727503958

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723783	SCV000202839	uncertain significance	not provided	2015-07-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089384	SCV000288916	likely benign	Brugada syndrome 8	2025-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247393	SCV000319923	likely benign	Cardiovascular phenotype	2015-07-17	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.
GeneDx	RCV000723783	SCV000722602	likely benign	not provided	2019-10-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000723783	SCV001144131	likely benign	not provided	2019-06-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723783	SCV001149539	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	HCN4: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000723783	SCV001744551	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000153355	SCV001918230	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723783	SCV001928146	likely benign	not provided		no assertion criteria provided	clinical testing