Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229245 | SCV000289576 | benign | Hereditary spastic paraplegia 47 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312958 | SCV000849230 | benign | Inborn genetic diseases | 2016-04-20 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome- |
RCV000229245 | SCV004050710 | benign | Hereditary spastic paraplegia 47 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000145024 | SCV000192061 | likely benign | not specified | no assertion criteria provided | clinical testing |