Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174107 | SCV000225347 | uncertain significance | not provided | 2015-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001485092 | SCV001689519 | likely benign | Muscular dystrophy-dystroglycanopathy type B6 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955021 | SCV004766849 | likely benign | LARGE1-related disorder | 2024-02-27 | 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). |