Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435562 | SCV000514434 | likely benign | not specified | 2017-07-13 | 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. |
Invitae | RCV002524792 | SCV000637547 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771850 | SCV000904568 | likely benign | Cardiomyopathy | 2018-05-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771850 | SCV001333883 | benign | Cardiomyopathy | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436251 | SCV002754307 | likely benign | Cardiovascular phenotype | 2018-11-08 | 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. |
Diagnostic Laboratory, |
RCV000534604 | SCV001740147 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000435562 | SCV001924722 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000534604 | SCV001929431 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000534604 | SCV001952874 | likely benign | not provided | no assertion criteria provided | clinical testing |