Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730220 | SCV000857940 | uncertain significance | not provided | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000730220 | SCV001774054 | likely benign | not provided | 2020-07-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000730220 | SCV004516362 | likely benign | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950305 | SCV004761524 | likely benign | TJP2-related condition | 2021-04-14 | 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). |