Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178564 | SCV000230668 | uncertain significance | not provided | 2014-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084032 | SCV001000826 | likely benign | Long QT syndrome | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354460 | SCV002650764 | likely benign | Cardiovascular phenotype | 2022-06-02 | 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 |
RCV000178564 | SCV004132358 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7 |