Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000991750 | SCV001143449 | uncertain significance | not provided | 2019-07-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001066014 | SCV001231007 | uncertain significance | Long QT syndrome | 2019-02-14 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CAV3-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.454del, disrupts the translational stop signal of CAV3 and is expected to extend the length of the protein by 100 additional amino acid residues. |
Gene |
RCV000991750 | SCV003842464 | uncertain significance | not provided | 2022-09-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Normal stop codon changed to a Lysine codon, leading to the addition of 100 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge |