Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Care4Rare- |
RCV000855533 | SCV000998544 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2U | 2019-10-31 | criteria provided, single submitter | research | |
Molecular Genetics Laboratory, |
RCV001173426 | SCV001336514 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003128719 | SCV003805951 | uncertain significance | not provided | 2022-08-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28708278, 32376792, 33827397, 33236345, 31356216) |