Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464873 | SCV000544344 | benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721496 | SCV000620970 | benign | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569892 | SCV000675480 | benign | Hereditary cancer-predisposing syndrome | 2023-02-13 | criteria provided, single submitter | clinical testing | This alteration is classified as 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- |
RCV000464873 | SCV002039729 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000569892 | SCV002533380 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-23 | criteria provided, single submitter | curation | |
Prevention |
RCV003418163 | SCV004116369 | uncertain significance | TSC2-related condition | 2023-02-21 | criteria provided, single submitter | clinical testing | The TSC2 c.3287C>T variant is predicted to result in the amino acid substitution p.Ser1096Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2129560-C-T). This variant has conflicting interpretations in ClinVar of benign, likely benign and uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/405973/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |