Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082242 | SCV000285399 | benign | Tuberous sclerosis 2 | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000443899 | SCV000529982 | likely benign | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022342 | SCV001184066 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-15 | 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. |
Genome- |
RCV001082242 | SCV002039457 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001082242 | SCV004236980 | uncertain significance | Tuberous sclerosis 2 | 2023-07-25 | criteria provided, single submitter | clinical testing |