Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000170941 | SCV000050679 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000223954 | SCV001003120 | likely benign | Brugada syndrome 8 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453581 | SCV002739223 | likely benign | Cardiovascular phenotype | 2019-08-02 | 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. |
OMIM | RCV000223954 | SCV000280586 | uncertain significance | Brugada syndrome 8 | 2012-10-09 | no assertion criteria provided | literature only |