Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817731 | SCV000958310 | benign | Kleefstra syndrome 1 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548715 | SCV001768675 | likely benign | not provided | 2020-02-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325609 | SCV002610671 | benign | Inborn genetic diseases | 2019-09-07 | 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. |
Ce |
RCV001548715 | SCV004164081 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BP7 |