Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080485 | SCV000112387 | benign | not specified | 2015-09-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000861612 | SCV001001980 | benign | Duchenne muscular dystrophy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542774 | SCV004793076 | likely benign | DMD-related disorder | 2020-03-03 | 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, |
RCV001831835 | SCV002092176 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-04-11 | no assertion criteria provided | clinical testing |