Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724330 | SCV000231789 | uncertain significance | not provided | 2014-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724330 | SCV000577417 | uncertain significance | not provided | 2017-03-30 | criteria provided, single submitter | clinical testing | The P243H variant in the MYH14 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P243H variant is observed in 2/61130 (0.003%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The P243H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P243H as a variant of uncertain significance. |
Clinical Genetics, |
RCV000724330 | SCV001919672 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724330 | SCV001970474 | uncertain significance | not provided | no assertion criteria provided | clinical testing |