Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639016 | SCV000760574 | likely benign | Duane-radial ray syndrome | 2022-11-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531354 | SCV001746413 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487497 | SCV002803460 | likely benign | Duane-radial ray syndrome; Oculootoradial syndrome | 2021-12-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910317 | SCV004718935 | likely benign | SALL4-related condition | 2020-01-23 | 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). |