ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4075-4C>A

gnomAD frequency: 0.00014  dbSNP: rs369044605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253253 SCV000318044 uncertain significance Cardiovascular phenotype 2020-08-26 criteria provided, single submitter clinical testing The c.4075-4C>A intronic variant results from a C to A substitution 4 nucleotides upstream from coding exon 33 in the CACNA1C gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001422387 SCV001624933 likely benign Long QT syndrome 2023-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000471974 SCV001945192 likely benign not provided 2020-04-06 criteria provided, single submitter clinical testing

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