Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000882438 | SCV001025677 | likely benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000882438 | SCV001895616 | benign | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975548 | SCV004787800 | likely benign | KCNH1-related condition | 2022-05-23 | 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). |
Department of Pathology and Laboratory Medicine, |
RCV000882438 | SCV001553494 | uncertain significance | not provided | no assertion criteria provided | clinical testing |