Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088583 | SCV000644387 | likely benign | Tuberous sclerosis 2 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000527425 | SCV001150708 | likely benign | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001088583 | SCV002039261 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433550 | SCV002748201 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-13 | 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 |
RCV000527425 | SCV003842700 | uncertain significance | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Tuberous sclerosis database |
RCV000055161 | SCV000083379 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |