Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226303 | SCV000285416 | benign | Tuberous sclerosis 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562922 | SCV000675516 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-03 | 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. |
Gene |
RCV001550632 | SCV001770990 | likely benign | not provided | 2019-11-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000226303 | SCV002039515 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000562922 | SCV002533970 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-28 | criteria provided, single submitter | curation |