Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680080 | SCV000807520 | pathogenic | Warburg micro syndrome 1 | 2017-09-01 | criteria provided, single submitter | clinical testing | This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with another pathogenic variant in an 8-year-old female with intellectual disability, dystonia, dysmorphisms, microcephaly, joint contractures, scoliosis, failure to thrive, structural brain abnormalities, optic nerve hypoplasia, congenital cataract |