Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001484600 | SCV001689019 | likely benign | Long QT syndrome | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001664897 | SCV001874595 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253818 | SCV002524999 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002405142 | SCV002714582 | likely benign | Cardiovascular phenotype | 2020-08-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |