Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719081 | SCV000728727 | likely benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311959 | SCV000845873 | likely benign | Inborn genetic diseases | 2016-04-07 | 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 | RCV002064352 | SCV002375908 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-18 | criteria provided, single submitter | clinical testing |