Submissions for variant NM_000719.7(CACNA1C):c.5680+11C>T

dbSNP: rs66611965

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079303	SCV000111173	benign	not specified	2013-02-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000079303	SCV000917102	benign	not specified	2018-01-12	criteria provided, single submitter	clinical testing	Variant summary: The CACNA1C c.5680+11C>T variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 134/30490 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.007961 (68/8542). This frequency is about 796 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610358	SCV001159688	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001610358	SCV001837852	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055108	SCV002468639	benign	Long QT syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610358	SCV005234742	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079303	SCV001932379	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079303	SCV001959847	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079303	SCV001978791	benign	not specified		no assertion criteria provided	clinical testing