Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000916352 | SCV001061588 | likely benign | Familial Mediterranean fever | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310310 | SCV001500046 | uncertain significance | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264090 | SCV002543738 | uncertain significance | Autoinflammatory syndrome | 2021-12-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543438 | SCV004772957 | likely benign | MEFV-related disorder | 2020-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Molecular Genetics Laboratory, |
RCV000916352 | SCV004015003 | uncertain significance | Familial Mediterranean fever | 2023-04-21 | no assertion criteria provided | clinical testing |