Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000144933 | SCV000191929 | pathogenic | Neuropathy, hereditary sensory and autonomic, type IId | 2013-04-30 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000790201 | SCV000929593 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Department of Neurology and Geriatrics, |
RCV002267728 | SCV002549901 | pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2021-11-16 | no assertion criteria provided | research |