Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000859681 | SCV000523127 | benign | not provided | 2019-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000549334 | SCV000649584 | likely benign | Intellectual disability, X-linked 1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318422 | SCV000849935 | likely benign | Inborn genetic diseases | 2016-03-17 | 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. |
Ce |
RCV000859681 | SCV001156062 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000549334 | SCV000734788 | likely benign | Intellectual disability, X-linked 1 | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000859681 | SCV001966229 | likely benign | not provided | no assertion criteria provided | clinical testing |