Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467793 | SCV000556578 | benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000768124 | SCV000899057 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | TSC2 NM_000548.4 exon 34 p.Val1362= (c.4086C>T): This variant has not been reported in the literature but is present in 14/33554 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763847509). This variant is present in ClinVar (Variation ID:413692). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV001021835 | SCV001183501 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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- |
RCV000467793 | SCV002039824 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539990 | SCV004781172 | likely benign | TSC2-related disorder | 2023-09-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV004002081 | SCV004818008 | benign | Tuberous sclerosis syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing |