Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000301701 | SCV000342790 | uncertain significance | not provided | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087439 | SCV001081209 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977802 | SCV004787693 | likely benign | DYSF-related condition | 2021-12-08 | 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). |