Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001434952 | SCV001637770 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965381 | SCV004782537 | likely benign | DYNC1H1-related condition | 2022-05-09 | 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). |