Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594474 | SCV000701419 | pathogenic | not provided | 2016-08-08 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV003338675 | SCV004047172 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | criteria provided, single submitter | clinical testing | The splice region variant c.1267_1276+4dup in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The observed variant is submitted to ClinVar database as Pathogenic / Likely pathogenic but no details are provided for individual assessment. For these reasons, this variant has been classified as Uncertain Significance. |