Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316786 | SCV000850516 | likely benign | Inborn genetic diseases | 2017-03-09 | 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. |
Invitae | RCV001513405 | SCV001721019 | benign | Kleefstra syndrome 1 | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000887539 | SCV001885810 | benign | not provided | 2020-02-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000887539 | SCV004164054 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BP7 |