Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613615 | SCV000731763 | likely benign | not specified | 2017-08-10 | criteria provided, single submitter | clinical testing | p.Ala957Ala in exon 25 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV002528787 | SCV002466914 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-09-27 | criteria provided, single submitter | clinical testing |