Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704469 | SCV000530634 | likely benign | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000461306 | SCV000556511 | likely benign | Tuberous sclerosis 2 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014069 | SCV001174732 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-19 | 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- |
RCV000461306 | SCV002041423 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |