Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262555 | SCV002542610 | likely pathogenic | Autoinflammatory syndrome | 2017-01-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004620 | SCV000024794 | pathogenic | Familial cold autoinflammatory syndrome 1 | 2001-11-01 | no assertion criteria provided | literature only | |
Unité médicale des maladies autoinflammatoires, |
RCV000004620 | SCV000116345 | not provided | Familial cold autoinflammatory syndrome 1 | no assertion provided | not provided |