Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469206 | SCV000559386 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000499433 | SCV000597183 | uncertain significance | not specified | 2016-11-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001809425 | SCV002056157 | likely benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902690 | SCV004721488 | likely benign | SMARCA4-related disorder | 2023-04-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |