Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032421 | SCV001016304 | benign | Autosomal dominant Parkinson disease 8 | 2023-02-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705620 | SCV001864254 | benign | not provided | 2020-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444452 | SCV002736550 | likely benign | Inborn genetic diseases | 2022-02-15 | 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 |
RCV000032421 | SCV000056077 | unknown | Autosomal dominant Parkinson disease 8 | 2012-09-13 | no assertion criteria provided | curation | Converted during submission to Uncertain significance. |