Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000901326 | SCV001045691 | likely benign | Amyotrophic lateral sclerosis type 21 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932828 | SCV004752140 | likely benign | MATR3-related condition | 2019-07-17 | 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). |