Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001463460 | SCV001667404 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-04-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900597 | SCV004713912 | likely benign | KIF1B-related condition | 2022-11-21 | 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). |