Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597839 | SCV000708862 | pathogenic | not provided | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000817766 | SCV000958349 | pathogenic | Qualitative or quantitative defects of dysferlin | 2018-08-27 | criteria provided, single submitter | clinical testing | Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant has not been reported in the literature in individuals with DYSF-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met1128Ilefs*47) in the DYSF gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003465347 | SCV004194237 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-08-02 | criteria provided, single submitter | clinical testing |