Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607215 | SCV000713169 | uncertain significance | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The c.563-3C>G variant in MYH14 has not been previously reported in individuals with hearing lo ss and was absent from large population studies. This variant is located in the 3' splice region. This cytosine (C) nucleotide at this position is well conserve d across species and computational tools suggest an impact to splicing; however, this information is not predictive enough to determine pathogenicity. In summar y, while there is some suspicion for a pathogenic role, the clinical significanc e of this variant is uncertain. |