Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003231114 | SCV003929589 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | Also known as IVS7-3C>G; In silico analysis supports a deleterious effect on splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28643795, 32461669) |
Tuberous sclerosis database |
RCV000055083 | SCV000083301 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |