Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003394719 | SCV004133856 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | KCNQ1OT1: BS1, BS2 |
Prevention |
RCV004540657 | SCV004787288 | likely benign | KCNQ1-related disorder | 2023-01-03 | 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). |