Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001427089 | SCV001629762 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930910 | SCV004740269 | likely benign | USH2A-related condition | 2019-11-06 | 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). |