Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201208 | SCV000255868 | pathogenic | Tuberous sclerosis 1 | 2013-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000255408 | SCV000322244 | pathogenic | not provided | 2016-02-10 | criteria provided, single submitter | clinical testing | The Q325X nonsense variant in the TSC1 gene has been reported previously in association with tuberous sclerosis complex (Au et al., 2007; TSC1 LOVD). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Genome- |
RCV000201208 | SCV002041108 | pathogenic | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042385 | SCV000066175 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |