Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001200210 | SCV000243545 | likely benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557687 | SCV000644258 | benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564968 | SCV000675568 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-06 | 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. |
Eurofins Ntd Llc |
RCV000189889 | SCV000859707 | likely benign | not specified | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000768351 | SCV000899049 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | TSC2 NM_000548 exon 15 p.Ser526Thr (c.1577G>C): This variant has not been reported in the literature but is present in 15/126622 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs376573446). This variant is present in ClinVar (Variation ID:207659). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ce |
RCV001200210 | SCV001371110 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000557687 | SCV002039554 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564968 | SCV002530970 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-15 | criteria provided, single submitter | curation |