Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000356278 | SCV000395631 | uncertain significance | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000470026 | SCV000544565 | likely benign | Tuberous sclerosis 2 | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020999 | SCV001182559 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-23 | 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- |
RCV000470026 | SCV002039780 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001020999 | SCV002533444 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-17 | criteria provided, single submitter | curation |