Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594742 | SCV000705290 | uncertain significance | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001080417 | SCV001031107 | likely benign | Duchenne muscular dystrophy | 2024-10-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829653 | SCV002090346 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2021-03-08 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004530689 | SCV004738325 | likely benign | DMD-related disorder | 2020-02-25 | no assertion criteria provided | 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). |