Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001457432 | SCV001661235 | likely benign | Qualitative or quantitative defects of dysferlin | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897991 | SCV004710019 | likely benign | DYSF-related condition | 2021-10-13 | 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, |
RCV001827112 | SCV002082361 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-12-21 | no assertion criteria provided | clinical testing |