Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001436812 | SCV001639656 | likely benign | Cryopyrin associated periodic syndrome | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682793 | SCV001899358 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262691 | SCV002542599 | uncertain significance | Autoinflammatory syndrome | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000084189 | SCV000116322 | not provided | Familial cold autoinflammatory syndrome 1 | no assertion provided | not provided | ||
Genome Diagnostics Laboratory, |
RCV001701747 | SCV001927158 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001682793 | SCV001970761 | likely benign | not provided | no assertion criteria provided | clinical testing |