Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079491 | SCV000544480 | likely benign | Tuberous sclerosis 2 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562910 | SCV000675542 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-15 | 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. |
Athena Diagnostics Inc | RCV000713934 | SCV000844581 | uncertain significance | not provided | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001079491 | SCV002039851 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000562910 | SCV002533528 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-11 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000042552 | SCV000066346 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |