Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036731 | SCV000060386 | likely benign | not specified | 2012-08-22 | criteria provided, single submitter | clinical testing | Tyr115Tyr in exon 6 of RYR2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Tyr115Tyr in exon 6 of RYR2 (allele frequency = n/a) |
Color Diagnostics, |
RCV000771380 | SCV000903682 | likely benign | Cardiomyopathy | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513415 | SCV001723227 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453308 | SCV002617955 | benign | Cardiovascular phenotype | 2021-06-03 | 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. |