Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127913 | SCV000171499 | benign | not specified | 2014-03-21 | 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. |
Eurofins Ntd Llc |
RCV000730227 | SCV000857948 | uncertain significance | not provided | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001517240 | SCV001725710 | benign | Brugada syndrome 5 | 2022-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345438 | SCV002651507 | likely benign | Cardiovascular phenotype | 2018-09-29 | 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. |