Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525739 | SCV000660154 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024437 | SCV004961685 | likely benign | Inborn genetic diseases | 2022-02-10 | 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. |