Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001822410 | SCV002066787 | uncertain significance | not specified | 2021-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002074356 | SCV002394244 | likely benign | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334711 | SCV002642412 | likely benign | Inborn genetic diseases | 2022-08-24 | 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. |