Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087662 | SCV000644620 | likely benign | Tuberous sclerosis 2 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842005 | SCV000983998 | likely benign | not provided | 2018-04-09 | 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. |
Genome- |
RCV001087662 | SCV002039932 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256376 | SCV002534034 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-12 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256376 | SCV002645342 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-16 | 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. |