Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170817 | SCV000223372 | uncertain significance | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 190679; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Fulgent Genetics, |
RCV000765083 | SCV000896288 | uncertain significance | Timothy syndrome; Brugada syndrome 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001036246 | SCV001199598 | likely benign | Long QT syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381543 | SCV002693266 | likely benign | Cardiovascular phenotype | 2023-05-18 | 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. |