Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000312521 | SCV000414542 | likely benign | Familial cold autoinflammatory syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000645668 | SCV000767419 | benign | Familial cold autoinflammatory syndrome 2 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263061 | SCV002542483 | likely benign | Autoinflammatory syndrome | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001701854 | SCV004142681 | benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | NLRP12: BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV001701854 | SCV001932186 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701854 | SCV001974136 | likely benign | not provided | no assertion criteria provided | clinical testing |