Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467275 | SCV000556472 | likely benign | Tuberous sclerosis 2 | 2022-07-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256286 | SCV002534074 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-01 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256286 | SCV002649141 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-04 | 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. |