Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579175 | SCV000681067 | likely pathogenic | not provided | 2017-10-31 | criteria provided, single submitter | clinical testing | The c.2583+1G>A variant in the COL11A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 34. The c.2583+1G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2583+1G>A as a likely pathogenic variant. |