Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989433 | SCV001139756 | pathogenic | Tuberous sclerosis 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV005253664 | SCV005906586 | pathogenic | not provided | 2024-10-07 | criteria provided, single submitter | clinical testing | Reported previously in patients with tuberous sclerosis complex (PMID: 35918040, 36232477); Canonical splice site variant predicted to result in a null allele 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: 35918040, 36232477) |
Division of Genomic Medicine, |
RCV000989433 | SCV001364431 | pathogenic | Tuberous sclerosis 2 | 2020-06-11 | no assertion criteria provided | clinical testing |