Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415102 | SCV000492713 | likely pathogenic | Leukodystrophy; Status epilepticus; Global developmental delay; Seizure; Fetal growth restriction; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; Loss of ambulation; EMG abnormality; EMG: axonal abnormality; Dysmyelinating leukodystrophy | 2015-10-28 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198292 | SCV001369175 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |