Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713747 | SCV000844376 | benign | not provided | 2018-04-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312255 | SCV000847337 | likely benign | Inborn genetic diseases | 2016-07-25 | 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 | RCV000713747 | SCV001001506 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713747 | SCV001884540 | benign | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499295 | SCV002812524 | likely benign | Developmental and epileptic encephalopathy, 18 | 2021-11-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002499295 | SCV004180025 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |