Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193052 | SCV000247132 | benign | not specified | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314798 | SCV000849067 | likely benign | Inborn genetic diseases | 2017-04-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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 |
RCV001762408 | SCV001988887 | benign | not provided | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001762408 | SCV004139970 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | CTCF: BP4, BP7 |