Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001448092 | SCV001651174 | likely benign | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973307 | SCV004792471 | likely benign | USH1C-related condition | 2019-02-26 | 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). |