Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002288541 | SCV002578684 | pathogenic | not provided | 2022-04-17 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 32211034, 30144504, 24622468) |
Tuberous sclerosis database |
RCV000042844 | SCV000066640 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |