Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725092 | SCV000333947 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725092 | SCV000621142 | uncertain significance | not provided | 2018-05-03 | criteria provided, single submitter | clinical testing | The D8223G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D8223G variant is observed in 57/24,030 (0.24%) alleles from individuals of African background (Lek et al., 2016). This 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 in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with SYNE1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Invitae | RCV001088187 | SCV000649143 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725092 | SCV001145949 | likely benign | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725092 | SCV003824714 | uncertain significance | not provided | 2019-07-11 | criteria provided, single submitter | clinical testing |