ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1114-10G>A (rs371725005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589363 SCV000697537 benign not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.1114-10G>A variant involves the alteration of a non-conserved intronic nucleotide and is predicted to have no significant impact on normal splicing by 4/5 splice prediction tools. This variant was found in 18/105732 control chromosomes at a frequency of 0.0001702, which is approximately 17 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as Benign.
GeneDx RCV000609948 SCV000723137 likely benign not specified 2017-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000589363 SCV001010411 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing

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