Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712211 | SCV000518265 | likely benign | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000472897 | SCV000556527 | likely benign | Tuberous sclerosis 2 | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001023989 | SCV001185938 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-20 | 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. |
Genome- |
RCV000472897 | SCV002039962 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001023989 | SCV002534064 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-01 | criteria provided, single submitter | curation |