Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190049 | SCV000243723 | uncertain significance | not provided | 2021-06-29 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 29655203) |
Fulgent Genetics, |
RCV002500581 | SCV002791027 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-02-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003468875 | SCV004206829 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-09-26 | criteria provided, single submitter | clinical testing | |
de |
RCV003485553 | SCV004022274 | likely pathogenic | Tuberous sclerosis 2 | 2023-07-21 | no assertion criteria provided | research | The variant NM_000548.5:c.-30+1G>C (chr16:2048066) in TSC2 was detected in 2 heterozygotes out of 58K WGS Icelanders (MAF= 0,002%). This variant has been reported in ClinVar previously as pathogenic and as a variant of uncertain significance. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. |