Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464533 | SCV000544387 | likely benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014158 | SCV001174838 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-27 | 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 |
RCV001310309 | SCV001800860 | likely benign | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000464533 | SCV002039612 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |