Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316169 | SCV000847796 | likely benign | Inborn genetic diseases | 2016-09-08 | 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 | RCV000865612 | SCV001006606 | likely benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000865612 | SCV001777862 | likely benign | not provided | 2019-02-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000865612 | SCV004123680 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SZT2: BP4 |
Genome- |
RCV003457756 | SCV004179925 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |