Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460314 | SCV000556554 | likely benign | Tuberous sclerosis 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000502223 | SCV000597594 | uncertain significance | not specified | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002257738 | SCV000847724 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-30 | 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 |
RCV001536183 | SCV001752905 | likely benign | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000460314 | SCV002041144 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257738 | SCV002532759 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-24 | criteria provided, single submitter | curation |