Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566510 | SCV000675611 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-11 | 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. |
Invitae | RCV001393490 | SCV001595154 | likely benign | Tuberous sclerosis 2 | 2023-11-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001393490 | SCV002039875 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000566510 | SCV002533993 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-01 | criteria provided, single submitter | curation |