Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000326568 | SCV000340277 | pathogenic | not provided | 2016-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001070067 | SCV001235276 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-07-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met1562Ilefs*39) 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). This variant is present in population databases (rs778065845, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 20544924). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 286729). |
Baylor Genetics | RCV003469240 | SCV004192246 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-03-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828234 | SCV002082342 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-08-19 | no assertion criteria provided | clinical testing |