Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317946 | SCV000849448 | benign | Inborn genetic diseases | 2017-03-16 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV000862207 | SCV001002681 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000862207 | SCV001751691 | likely benign | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000862207 | SCV004123708 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | SZT2: BP4, BS2 |
Genome- |
RCV003457771 | SCV004178095 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |