Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734919 | SCV000863099 | uncertain significance | not provided | 2018-08-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000734919 | SCV004511132 | likely benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908057 | SCV004724719 | likely benign | TJP2-related disorder | 2020-04-02 | no assertion criteria provided | 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). |