Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194893 | SCV000248890 | uncertain significance | not specified | 2014-10-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315501 | SCV000849344 | benign | Inborn genetic diseases | 2018-09-29 | 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. |
Invitae | RCV002517136 | SCV001004213 | likely benign | Spastic paraplegia | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000863531 | SCV001860403 | benign | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing |