Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194238 | SCV000247139 | uncertain significance | not specified | 2014-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000968935 | SCV001116419 | benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000968935 | SCV001834429 | benign | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000968935 | SCV002496805 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | CTNNB1: BP4, BP7 |
Prevention |
RCV003955147 | SCV004769778 | benign | CTNNB1-related condition | 2019-04-10 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |