Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UNC Molecular Genetics Laboratory, |
RCV001095684 | SCV001251462 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | criteria provided, single submitter | research | The DYNC2H1 c.8283delT (p.F2761Lfs) variant is a frameshift single nucleotide deletion, which may result in a nonfunctional DYNC2H1 protein. To our knowledge, this variant has not been described in the literature. |