Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234437 | SCV000285221 | likely benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000603071 | SCV000716329 | likely benign | not specified | 2017-03-02 | 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- |
RCV000234437 | SCV002041294 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257535 | SCV002532743 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-19 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002257535 | SCV002721615 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-17 | 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. |