Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000248584 | SCV000315117 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000725762 | SCV000339244 | uncertain significance | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087053 | SCV001016421 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725762 | SCV001476996 | likely benign | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725762 | SCV001811640 | uncertain significance | not provided | 2020-12-17 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |