Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170758 | SCV000223312 | benign | not specified | 2014-09-10 | 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 | RCV000535148 | SCV000627560 | benign | Long QT syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619138 | SCV000737868 | likely benign | Cardiovascular phenotype | 2017-01-25 | 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. |
Ce |
RCV003390887 | SCV004132352 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7, BS1 |
Prevention |
RCV003907535 | SCV004725583 | likely benign | CACNA1C-related disorder | 2019-06-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |