Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726119 | SCV000342140 | uncertain significance | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726119 | SCV000622032 | uncertain significance | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | The L6254P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L6254P variant is observed in 22/126,704 (0.02%) alleles from individuals of European background (Lek et al., 2016). This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. |
Institute of Human Genetics, |
RCV002275007 | SCV002562226 | uncertain significance | See cases | 2022-08-12 | criteria provided, single submitter | clinical testing | ACMG categories: PM2,BP4 |
Revvity Omics, |
RCV000726119 | SCV003825280 | uncertain significance | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252115 | SCV001427864 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |