Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000726866 | SCV000703726 | pathogenic | not provided | 2016-12-04 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000593315 | SCV000799892 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-05-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001238017 | SCV001410811 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile1018Hisfs*14) 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 (rs756118312, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 498619). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV000726866 | SCV002024444 | pathogenic | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003465338 | SCV004192243 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-03-15 | criteria provided, single submitter | clinical testing |