Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201016 | SCV000255874 | pathogenic | Tuberous sclerosis 2 | 2012-06-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000498319 | SCV000589550 | pathogenic | not provided | 2022-12-14 | criteria provided, single submitter | clinical testing | Reported previously in multiple individuals with tuberous sclerosis complex (Jobert et al., 1997; Kwiatkowski et al., 2015); Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 25782670, 25525159, 24271014, 9412784) |
Genome- |
RCV000201016 | SCV002040935 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042895 | SCV000066691 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |