Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862966 | SCV001003546 | likely benign | Jeune thoracic dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555270 | SCV001776655 | likely benign | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908183 | SCV004718556 | likely benign | DYNC2H1-related condition | 2019-08-09 | 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). |