Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230947 | SCV001403449 | likely benign | Charcot-Marie-Tooth disease dominant intermediate B | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773523 | SCV001992667 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); 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 |
Revvity Omics, |
RCV001773523 | SCV003830495 | uncertain significance | not provided | 2021-10-25 | criteria provided, single submitter | clinical testing |