Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459918 | SCV000553351 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313181 | SCV000849251 | benign | Inborn genetic diseases | 2017-03-29 | 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. |
Gene |
RCV000459918 | SCV001783914 | likely benign | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457687 | SCV004178000 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252126 | SCV001427876 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |