Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479946 | SCV000572772 | uncertain significance | not provided | 2018-01-31 | criteria provided, single submitter | clinical testing | The c.1945-5 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1945-5 T>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.1945-5 T>C reduces the quality of the natural splice acceptor site which may lead to abnormal gene splicing. 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 a pathogenic variant or a rare benign variant. |
Invitae | RCV001227597 | SCV001399959 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-10-13 | criteria provided, single submitter | clinical testing |