Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727502 | SCV000521318 | uncertain significance | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV000574046 | SCV000675475 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-04 | 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. |
Eurofins Ntd Llc |
RCV000727502 | SCV000709197 | uncertain significance | not provided | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079788 | SCV000765859 | likely benign | Tuberous sclerosis 2 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001079788 | SCV002039627 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000574046 | SCV002531043 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-27 | criteria provided, single submitter | curation | |
Prevention |
RCV003983041 | SCV004799965 | uncertain significance | TSC2-related condition | 2024-01-19 | criteria provided, single submitter | clinical testing | The TSC2 c.2220+4C>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. In ClinVar, this variant is interpreted as uncertain/likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/381732/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |