Total submissions: 3
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 | |
Gene |
RCV000471974 | SCV001945192 | likely benign | not provided | 2020-04-06 | criteria provided, single submitter | clinical testing |