Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544959 | SCV000630002 | benign | Adrenoleukodystrophy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431553 | SCV002730731 | likely benign | Inborn genetic diseases | 2018-12-13 | 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. |
Gene |
RCV003128625 | SCV003805838 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |