Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727385 | SCV000582530 | uncertain significance | not provided | 2017-05-11 | criteria provided, single submitter | clinical testing | The R3081H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3081H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3081H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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. |
Eurofins Ntd Llc |
RCV000727385 | SCV000708068 | uncertain significance | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing |