Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000424252 | SCV000515788 | pathogenic | not provided | 2015-03-05 | criteria provided, single submitter | clinical testing | The c.1159+1 G>A splice site variant in the PAFAH1B1 gene destroys the canonical splice donor site inintron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subjectto nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for proteintranslation. Although this variant has not been previously reported to our knowledge, however we consider it to be a pathogenic variant. |
Genetic Services Laboratory, |
RCV000502763 | SCV000596203 | pathogenic | Lissencephaly due to LIS1 mutation | 2016-09-21 | criteria provided, single submitter | clinical testing |