Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092097 | SCV001248460 | pathogenic | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005622 | SCV000025804 | pathogenic | Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2004-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000005622 | SCV000041120 | pathologic | Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2012-08-16 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Inherited Neuropathy Consortium | RCV000789083 | SCV000928432 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |