Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808887 | SCV000949016 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-08-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 619218). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1695Serfs*27) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). |
Baylor Genetics | RCV003461013 | SCV004194230 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000758200 | SCV000886511 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-10-26 | no assertion criteria provided | clinical testing |