Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462518 | SCV000563178 | benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000462518 | SCV001146053 | benign | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000462518 | SCV001826454 | likely benign | not provided | 2021-01-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821381 | SCV002065663 | likely benign | not specified | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367619 | SCV002663028 | likely benign | Inborn genetic diseases | 2017-11-02 | 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 |
RCV000462518 | SCV004123689 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | SZT2: BP4, BP7 |
Genome- |
RCV003457704 | SCV004180442 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |