Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753454 | SCV001985436 | uncertain significance | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | Reported previously in an individual with a clinical diagnosis of TSC who also harbored a missense variant in the TSC1 gene. Information about parental testing was not provided (Yamamoto et al., 2002); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 14756965, 12015165) |
Tuberous sclerosis database |
RCV000042393 | SCV000066183 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |