Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649588 | SCV000771417 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172862 | SCV001335935 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ce |
RCV003392495 | SCV004130451 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |
Prevention |
RCV003953167 | SCV004776323 | likely benign | DYNC1H1-related condition | 2019-03-21 | 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). |