Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002273945 | SCV002559433 | pathogenic | not provided | 2022-03-07 | 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: 32211034) |
Tuberous sclerosis database |
RCV000042553 | SCV000066347 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |