Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000120223 | SCV000246790 | benign | not specified | 2016-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000529058 | SCV000640052 | benign | Oculofaciocardiodental syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371954 | SCV002624565 | benign | Inborn genetic diseases | 2021-11-08 | 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. |
ITMI | RCV000120223 | SCV000084369 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |