Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704720 | SCV000714571 | likely benign | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000865564 | SCV001006554 | benign | Loeys-Dietz syndrome 2 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024906 | SCV002682632 | likely benign | not specified | 2018-03-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |