Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000001170 | SCV000021320 | pathogenic | Spastic paraplegia 11, autosomal recessive | 2015-11-10 | no assertion criteria provided | literature only | |
Gene |
RCV000001170 | SCV000058106 | pathologic | Spastic paraplegia 11, autosomal recessive | 2013-01-31 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
OMIM | RCV000193032 | SCV000249578 | pathogenic | Amyotrophic lateral sclerosis type 5 | 2015-11-10 | no assertion criteria provided | literature only | |
OMIM | RCV000202382 | SCV000257390 | pathogenic | Charcot-Marie-Tooth disease, axonal type 2X | 2015-11-10 | no assertion criteria provided | literature only |