Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522224 | SCV000617198 | uncertain significance | not provided | 2017-11-02 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the KCNQ2 gene. The c.1218-18 T>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.1218-18 T>G reduces the quality of the natural splice acceptor site in intron 10, which may lead to abnormal genesplicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant. |
Invitae | RCV002527571 | SCV003027043 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000522224 | SCV003811977 | uncertain significance | not provided | 2022-03-30 | criteria provided, single submitter | clinical testing |