Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000393229 | SCV000343513 | uncertain significance | not provided | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000393229 | SCV001066959 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957502 | SCV004766693 | likely benign | CLDN1-related condition | 2020-07-17 | 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). |