Submissions for variant NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)

gnomAD frequency: 0.00002  dbSNP: rs545511851

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	RCV000337286	SCV000805173	uncertain significance	Timothy syndrome	2018-05-08	criteria provided, single submitter	clinical testing
Invitae	RCV000808464	SCV000948573	likely benign	Long QT syndrome	2023-12-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494962	SCV002778308	uncertain significance	Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000994771	SCV003926380	uncertain significance	not provided	2022-11-18	criteria provided, single submitter	clinical testing	Reported in association with LQTS in published literature (Marschall et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31737537)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000994771	SCV001798332	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000994771	SCV001924854	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000994771	SCV001963066	uncertain significance	not provided		no assertion criteria provided	clinical testing