Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001457424 | SCV001661227 | likely benign | not provided | 2023-11-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900573 | SCV004716025 | likely benign | USH2A-related condition | 2022-09-08 | 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). |