Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867922 | SCV001009196 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174012 | SCV001337132 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Prevention |
RCV003895281 | SCV004717032 | likely benign | DYNC1H1-related condition | 2021-08-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |