Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525041 | SCV000631266 | likely benign | CHARGE association | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683558 | SCV001896053 | benign | not provided | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935409 | SCV004759694 | likely benign | CHD7-related condition | 2023-07-10 | 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). |