Submissions for variant NM_005477.3(HCN4):c.1656C>T (p.His552=)

gnomAD frequency: 0.00029  dbSNP: rs148142070

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000621193	SCV000736458	likely benign	Cardiovascular phenotype	2016-12-07	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	RCV000647276	SCV000769065	likely benign	Brugada syndrome 8	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001289447	SCV001477266	benign	not specified	2020-08-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001529121	SCV001889648	likely benign	not provided	2020-12-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529121	SCV001742047	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001289447	SCV001918758	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529121	SCV001974670	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529121	SCV001979537	likely benign	not provided		no assertion criteria provided	clinical testing