Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521730 | SCV000621722 | uncertain significance | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | The c.924 G>A 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). Severalin-silico splice prediction models predict that c.924 G>A may increase the strength of a cryptic splice donor site or create a new cryptic splice donor site in exon 7, which may supplant the natural donor site and 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 | RCV002060283 | SCV002397272 | likely benign | Neuronal ceroid lipofuscinosis | 2022-11-22 | criteria provided, single submitter | clinical testing |