Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193621 | SCV000247704 | benign | not specified | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000542882 | SCV000653825 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002460967 | SCV000847959 | benign | Inborn genetic diseases | 2016-01-25 | 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 |
RCV000542882 | SCV001825566 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing |