Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001489814 | SCV001694367 | likely benign | Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 | 2023-04-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915116 | SCV004735061 | likely benign | NLRC4-related condition | 2023-06-16 | 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). |
Human Evolutionary Genetics, |
RCV000089344 | SCV000121802 | untested | not provided | no assertion provided | not provided | Converted during submission to not provided. |