Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001285870 | SCV001472372 | likely benign | Charcot-Marie-Tooth disease type 4B3 | 2019-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069519 | SCV002431606 | likely benign | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953628 | SCV004768673 | likely benign | SBF1-related condition | 2022-12-29 | 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). |