Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697472 | SCV000719448 | likely benign | not provided | 2020-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317350 | SCV000850045 | likely benign | Inborn genetic diseases | 2016-06-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV001475915 | SCV001680114 | likely benign | Pitt-Hopkins-like syndrome 2 | 2023-11-17 | criteria provided, single submitter | clinical testing |