Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439386 | SCV000528542 | likely benign | not specified | 2016-06-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000619995 | SCV000737714 | likely benign | Cardiovascular phenotype | 2016-11-21 | 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. |
Color Diagnostics, |
RCV001191857 | SCV001359773 | likely benign | Cardiomyopathy | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519784 | SCV001642738 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-07-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326380 | SCV004033013 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | RYR2: BP4, BP7 |