Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001475440 | SCV001679630 | likely benign | Hereditary hemorrhagic telangiectasia | 2022-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368459 | SCV002662385 | likely benign | Cardiovascular phenotype | 2022-07-29 | 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 |
RCV003426132 | SCV004160758 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | ENG: BP4, BP7 |