Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314103 | SCV000848501 | likely benign | Inborn genetic diseases | 2016-12-16 | 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 | RCV000359115 | SCV001097559 | benign | Kleefstra syndrome 1 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706612 | SCV001896546 | benign | not provided | 2018-11-05 | criteria provided, single submitter | clinical testing |