Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553299 | SCV000644352 | likely benign | Tuberous sclerosis 2 | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431634 | SCV002742511 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-12 | 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. |
Prevention |
RCV003419960 | SCV004107195 | uncertain significance | TSC2-related condition | 2023-02-27 | criteria provided, single submitter | clinical testing | The TSC2 c.2510C>G variant is predicted to result in the amino acid substitution p.Ala837Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2124355-C-G) and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/467948/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |