Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000294377 | SCV000330442 | pathogenic | not provided | 2016-04-21 | criteria provided, single submitter | clinical testing | The c.3082+1 G>C splice site variant in the ASPM gene destroys the canonical splice donor site in intron 11. It ispredicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediatedmRNA decay, or to an abnormal protein product if the message is used for protein truncation. Although c.3082+1G>C has not been reported previously to our knowledge, it is expected to be a pathogenic variant. |
Cirak Lab, |
RCV000855492 | SCV000996622 | likely pathogenic | Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita | 2019-06-28 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002503977 | SCV002813941 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002503977 | SCV004172577 | likely pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing |