Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UNC Molecular Genetics Laboratory, |
RCV001095707 | SCV001251527 | likely pathogenic | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | criteria provided, single submitter | research | The ATP13A2 c.558-1G>T (p.?) variant is predicted to disrupt a canonical mRNA splice acceptor site. |