Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003952539 | SCV004768284 | likely benign | NLRP2-related condition | 2019-03-26 | 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). |
Human Evolutionary Genetics, |
RCV000089307 | SCV000120655 | untested | not provided | no assertion provided | not provided | Converted during submission to not provided. |