Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000333360 | SCV000342106 | uncertain significance | not provided | 2017-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000333360 | SCV001040344 | likely benign | not provided | 2022-04-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000333360 | SCV001785441 | uncertain significance | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003957494 | SCV004771313 | likely benign | TJP2-related condition | 2023-04-17 | 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). |