Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644076 | SCV000765766 | benign | Tuberous sclerosis 2 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556535 | SCV001778137 | uncertain significance | not provided | 2019-06-13 | 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; This variant is associated with the following publications: (PMID: 24728327) |
Genome- |
RCV000644076 | SCV002040799 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
St. |
RCV000644076 | SCV003843124 | uncertain significance | Tuberous sclerosis 2 | 2022-10-24 | criteria provided, single submitter | clinical testing | The TSC2 c.3962A>T (p.Glu1321Val) missense change has a maximum subpopulation frequency of 0.00090% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in the literature in individuals with tuberous sclerosis complex. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |
Ambry Genetics | RCV003298144 | SCV003988613 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-15 | 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. |
Baylor Genetics | RCV003460863 | SCV004204516 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-10-27 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000122228 | SCV000086449 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |