Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756061 | SCV000883774 | likely benign | not provided | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067188 | SCV002336454 | likely benign | Jeune thoracic dystrophy | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938132 | SCV004760509 | likely benign | DYNC2H1-related condition | 2023-04-10 | 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). |