Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085726 | SCV000556640 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000597668 | SCV000709151 | uncertain significance | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224293 | SCV003920598 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | TSC2 c.5068+8C>T: This variant has not been reported in the literature, but is present in 7/245274 individuals of various ethnicity in the Genome Aggregation Database. (http://gnomad.broadinstitute.org/rs747827911). This variant is present in ClinVar (Variation ID: 413725). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |