Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036741 | SCV000060396 | likely benign | not specified | 2011-12-21 | criteria provided, single submitter | clinical testing | 4160+10T>C in intron 31 of RYR2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 416 0+10T>C in intron 31 of RYR2 (allele frequency = n/a) |
Invitae | RCV002513419 | SCV002344072 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-04-28 | criteria provided, single submitter | clinical testing |