Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595997 | SCV000703224 | uncertain significance | not provided | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595997 | SCV001785597 | likely benign | not provided | 2019-06-26 | 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 |
Invitae | RCV001854018 | SCV002143170 | benign | CHARGE association | 2023-03-04 | criteria provided, single submitter | clinical testing |