Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000377604 | SCV000341755 | uncertain significance | not provided | 2016-05-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518000 | SCV001008678 | benign | Spastic paraplegia | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328784 | SCV002634294 | likely benign | Inborn genetic diseases | 2018-07-26 | 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. |