Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001975182 | SCV002243474 | likely benign | Long QT syndrome | 2021-02-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331537 | SCV002635422 | likely benign | Cardiovascular phenotype | 2020-03-16 | 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. |
Ce |
RCV003395323 | SCV004132343 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7 |