Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865242 | SCV001006177 | likely benign | Brugada syndrome 8 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575483 | SCV001802487 | uncertain significance | not provided | 2019-12-09 | criteria provided, single submitter | clinical testing | Reported in a Chinese individual with sudden unexplained nocturnal death syndrome (Wu et al., 2018); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30452770) |
Ambry Genetics | RCV002442813 | SCV002612175 | likely benign | Cardiovascular phenotype | 2021-08-03 | 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. |