Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200599 | SCV001371605 | pathogenic | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Neurogenetic Laboratory, |
RCV001374667 | SCV001571593 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 89 | 2021-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics |
RCV000681463 | SCV000808061 | pathogenic | Optic neuropathy; Progressive cerebellar ataxia; Abnormal cerebral white matter morphology; Abnormal pyramidal sign; Congenital sensorineural hearing impairment | 2018-09-10 | no assertion criteria provided | research | |
OMIM | RCV001293664 | SCV001482431 | pathogenic | Deafness, congenital, and adult-onset progressive leukoencephalopathy | 2021-03-01 | no assertion criteria provided | literature only |