Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156583 | SCV000206302 | likely benign | not specified | 2014-05-22 | criteria provided, single submitter | clinical testing | Ala1403Ala in exon 32 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 wit hin the splice consensus sequence. |
Invitae | RCV002515029 | SCV000760715 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190196 | SCV001357636 | likely benign | Cardiomyopathy | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326890 | SCV002628108 | likely benign | Cardiovascular phenotype | 2022-02-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |