Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201178 | SCV000255853 | pathogenic | Tuberous sclerosis 1 | 2012-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201178 | SCV000965513 | pathogenic | Tuberous sclerosis 1 | 2021-01-13 | criteria provided, single submitter | clinical testing | Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 16981987) and in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln654Thrfs*34) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV000201178 | SCV002040919 | pathogenic | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000201178 | SCV002581570 | pathogenic | Tuberous sclerosis 1 | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042108 | SCV000065892 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |