Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001497524 | SCV001702256 | likely benign | Tuberous sclerosis 2 | 2023-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000547621 | SCV001814973 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001497524 | SCV002041420 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420459 | SCV002722939 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-21 | 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. |