Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156243 | SCV000205959 | likely benign | not specified | 2013-12-26 | criteria provided, single submitter | clinical testing | 11326-4A>G in intron 82 of RYR2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 11326-4A>G in intron 82 of RYR2 (allele frequency = n/a) |
Invitae | RCV002516330 | SCV002333879 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444645 | SCV002612183 | benign | Cardiovascular phenotype | 2023-05-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |