Submissions for variant NM_005477.3(HCN4):c.1053C>T (p.Pro351=)

gnomAD frequency: 0.00002  dbSNP: rs773287506

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002070363	SCV002404810	likely benign	Brugada syndrome 8	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004995938	SCV005591946	likely benign	Cardiovascular phenotype	2024-10-22	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529495	SCV001743047	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701194	SCV001921357	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529495	SCV001959531	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529495	SCV001967201	likely benign	not provided		no assertion criteria provided	clinical testing