Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726952 | SCV000704415 | pathogenic | not provided | 2016-12-28 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000591372 | SCV000799526 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001867948 | SCV002220940 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu276Serfs*12) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with DYSF-related conditions (PMID: 25868377, 27363342). ClinVar contains an entry for this variant (Variation ID: 499095). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002506415 | SCV002812709 | pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2022-02-28 | criteria provided, single submitter | clinical testing |