Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082220 | SCV000114169 | benign | not specified | 2012-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000535789 | SCV000636575 | benign | Kleefstra syndrome 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316270 | SCV000850524 | benign | Inborn genetic diseases | 2017-03-21 | 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 |
RCV001711583 | SCV001941715 | likely benign | not provided | 2021-01-28 | criteria provided, single submitter | clinical testing |