Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000043633 | SCV001428925 | likely pathogenic | Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2018-01-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000043633 | SCV000071658 | pathogenic | Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2012-05-15 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV003447104 | SCV004174784 | uncertain significance | Hereditary sensory neuropathy-deafness-dementia syndrome | 2016-01-06 | no assertion criteria provided | literature only |