Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000938258 | SCV001084063 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003913174 | SCV004735126 | likely benign | MYO7A-related condition | 2020-07-01 | 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, |
RCV001274689 | SCV001459056 | uncertain significance | Usher syndrome type 1B | 2020-01-24 | no assertion criteria provided | clinical testing |