Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002554036 | SCV001614948 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395935 | SCV002697526 | uncertain significance | Cardiovascular phenotype | 2021-01-21 | criteria provided, single submitter | clinical testing | The c.1472-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 24 in the TRDN gene. This nucleotide position is not 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. |