Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679878 | SCV000807260 | pathogenic | X-linked cerebral-cerebellar-coloboma syndrome syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 5-year-old male with intellectual disability, myoclonic epilepsy, spasticity, high myopia, kyphosis, scoliosis, undermyelination on MRI. |