Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000043631 | SCV000071656 | pathogenic | Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2012-05-15 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV003447103 | SCV004174783 | uncertain significance | Hereditary sensory neuropathy-deafness-dementia syndrome | 2016-01-06 | no assertion criteria provided | literature only |