Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866724 | SCV001007859 | likely benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549857 | SCV001770085 | uncertain significance | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002372430 | SCV002687355 | likely benign | Cardiovascular phenotype | 2022-04-12 | 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. |
Natera, |
RCV000866724 | SCV001459587 | likely benign | Alstrom syndrome | 2020-01-10 | no assertion criteria provided | clinical testing |