Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000010422 | SCV000030648 | pathogenic | McLeod neuroacanthocytosis syndrome | 2001-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010422 | SCV001981683 | not provided | McLeod neuroacanthocytosis syndrome | no assertion provided | literature only | This reported XK missense variant predicted to disrupt either structure or function |