Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001574794 | SCV001801669 | pathogenic | not provided | 2020-06-17 | criteria provided, single submitter | clinical testing | Observed in a patient with TSC and a pancreatic neuroendocrine tumor in published literature (Bombardieri et al., 2013); Intronic splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23757617) |
Tuberous sclerosis database |
RCV000055165 | SCV000083383 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |