Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553189 | SCV000646324 | benign | Familial cold autoinflammatory syndrome 2 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000553189 | SCV004563687 | likely benign | Familial cold autoinflammatory syndrome 2 | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960349 | SCV004774745 | likely benign | NLRP12-related disorder | 2019-11-26 | 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). |