Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680012 | SCV000807451 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 2017-09-01 | criteria provided, single submitter | clinical testing | This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant in a newborn female with MRI suggestive of Walker-Warburg, microphthalmia, possible cataract, encephalocele, hypotonia, dysmorhisms |