Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036773 | SCV000060428 | likely benign | not specified | 2011-10-06 | criteria provided, single submitter | clinical testing | Val1918Val in exon 38 of RYR2: This variant does not change an amino acid and do es not affect the splice consensus sequence. This makes a disease causing role v ery unlikely. |
Invitae | RCV002513432 | SCV001728975 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001804762 | SCV002053446 | likely benign | Cardiomyopathy | 2021-06-01 | criteria provided, single submitter | clinical testing |