Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000242377 | SCV000305244 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000468975 | SCV000556684 | benign | Tuberous sclerosis 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569252 | SCV000675583 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-09 | 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- |
RCV000468975 | SCV002039924 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569252 | SCV002534029 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-21 | criteria provided, single submitter | curation |