Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618532 | SCV000737905 | likely benign | Cardiovascular phenotype | 2017-02-20 | 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 | RCV000647270 | SCV000769059 | likely benign | Brugada syndrome 8 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001530140 | SCV001784575 | likely benign | not provided | 2019-05-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928034 | SCV004743125 | likely benign | HCN4-related condition | 2019-09-17 | 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). |
Diagnostic Laboratory, |
RCV001530140 | SCV001744856 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001701402 | SCV001924177 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001530140 | SCV001966695 | likely benign | not provided | no assertion criteria provided | clinical testing |