Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000941412 | SCV001087298 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000941412 | SCV001944096 | benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003933213 | SCV004750403 | likely benign | USH1C-related condition | 2019-07-12 | 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, |
RCV001276298 | SCV001462413 | benign | Usher syndrome type 1C | 2020-04-11 | no assertion criteria provided | clinical testing |