Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125685 | SCV000169148 | benign | not specified | 2014-02-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000163294 | SCV000213822 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-21 | 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. |
Invitae | RCV000232233 | SCV000285392 | benign | Tuberous sclerosis 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171697 | SCV001334518 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Genome- |
RCV000232233 | SCV002039444 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163294 | SCV002533521 | benign | Hereditary cancer-predisposing syndrome | 2021-02-01 | criteria provided, single submitter | curation |