Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036744 | SCV000060399 | likely benign | not specified | 2011-12-09 | criteria provided, single submitter | clinical testing | Val1443Val in exon 33 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. |
Invitae | RCV003103722 | SCV001415217 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-04 | criteria provided, single submitter | clinical testing |