Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV002248650 | SCV000328715 | likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies | 2014-04-30 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in COL4A1 (NM_001845.4, c.3555A>G) and CRYGD (NM_006891.3, c.168C>G) in one individual with reported features of developmental delay, intellectual disability, seizure, dysmorphic features, microcephaly, a history of congenital cataract and stroke-like episodes. |