Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001414760 | SCV001616901 | likely benign | CHARGE association | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983221 | SCV004800797 | likely benign | SEMA3E-related condition | 2022-02-11 | 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). |