Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232439 | SCV000285398 | likely benign | Tuberous sclerosis 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000502912 | SCV000597597 | uncertain significance | not specified | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562405 | SCV000664705 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-18 | 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. |
Center for Human Genetics, |
RCV000232439 | SCV000782410 | uncertain significance | Tuberous sclerosis 2 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000232439 | SCV002039850 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003417807 | SCV004113451 | uncertain significance | TSC2-related condition | 2022-12-19 | criteria provided, single submitter | clinical testing | The TSC2 c.4346C>T variant is predicted to result in the amino acid substitution p.Ser1449Phe. This variant was reported in a patient with breast cancer (Table S2, Chan et al. 2018. PubMed ID: 30093976). This variant is reported in 0.00080% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2134569-C-T). In ClinVar this variant is interpreted by other laboratories as uncertain (3) and likely benign (2) (https://www.ncbi.nlm.nih.gov/clinvar/variation/238045/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |