ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5680+11C>T (rs66611965)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079303 SCV000111173 benign not specified 2013-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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 RCV000079303 SCV001159688 benign not specified 2019-03-01 criteria provided, single submitter clinical testing

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