Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532686 | SCV000654624 | likely benign | Charcot-Marie-Tooth disease type 2R | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092651 | SCV001249259 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TRIM2: BS2 |
ARUP Laboratories, |
RCV000532686 | SCV001472501 | likely benign | Charcot-Marie-Tooth disease type 2R | 2019-10-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001092651 | SCV001773324 | likely benign | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980015 | SCV004793987 | likely benign | TRIM2-related condition | 2022-10-04 | 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). |