Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774120 | SCV000907820 | likely benign | Cardiomyopathy | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002534117 | SCV001656505 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-01-14 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823744 | SCV002073472 | likely benign | not specified | 2022-01-14 | criteria provided, single submitter | clinical testing | This synonymous variant has an entry in ClinVar (629414) NM_001035.3 (RYR2): c.5298C>T (p.Pro1766=) and has not occurred in population databases. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign. |