Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252770 | SCV000312494 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000713750 | SCV000563147 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713750 | SCV000844379 | benign | not provided | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311391 | SCV000847014 | benign | Inborn genetic diseases | 2016-03-18 | 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. |
Gene |
RCV000713750 | SCV001842024 | benign | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457665 | SCV004181187 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |