Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000983219 | SCV001131240 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897997 | SCV004714121 | likely benign | USH1C-related condition | 2020-08-19 | 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). |
Natera, |
RCV001827119 | SCV002081318 | likely benign | Usher syndrome type 1C | 2020-07-25 | no assertion criteria provided | clinical testing |