Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592461 | SCV000701441 | uncertain significance | not provided | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084298 | SCV000765907 | likely benign | Tuberous sclerosis 2 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592461 | SCV001995423 | uncertain significance | not provided | 2019-09-20 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001084298 | SCV002039857 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331007 | SCV002631136 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-12 | 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. |