Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620862 | SCV000736117 | uncertain significance | Cardiovascular phenotype | 2017-11-27 | criteria provided, single submitter | clinical testing | The p.A1317T variant (also known as c.3949G>A), located in coding exon 32 of the CACNA1C gene, results from a G to A substitution at nucleotide position 3949. The alanine at codon 1317 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Ambry Genetics | RCV000717959 | SCV000848820 | uncertain significance | History of neurodevelopmental disorder | 2017-11-27 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient evidence |
Invitae | RCV001213243 | SCV001384864 | likely benign | Long QT syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002261133 | SCV002541185 | uncertain significance | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing |