Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593817 | SCV000705865 | uncertain significance | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983140 | SCV004800000 | likely benign | TJP2-related condition | 2022-02-18 | 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). |