Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530988 | SCV000644522 | benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022235 | SCV001183949 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-08 | 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- |
RCV000530988 | SCV002039448 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001022235 | SCV002533524 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-01 | criteria provided, single submitter | curation | |
Ce |
RCV003392392 | SCV004129859 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |