Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124109 | SCV000167518 | benign | not specified | 2014-03-29 | 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 | RCV000241586 | SCV000319530 | likely benign | Cardiovascular phenotype | 2015-03-23 | 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. |
Invitae | RCV000469061 | SCV000562835 | benign | Brugada syndrome 4 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000469061 | SCV000743844 | benign | Brugada syndrome 4 | 2017-03-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000469061 | SCV001471436 | likely benign | Brugada syndrome 4 | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003415930 | SCV004126525 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CACNB2: BP4, BP7, BS1 |
Clinical Genetics, |
RCV000124109 | SCV001925120 | benign | not specified | no assertion criteria provided | clinical testing |