Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241365 | SCV001729279 | benign | Chondrodysplasia punctata, brachytelephalangic, autosomal | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921156 | SCV004731964 | likely benign | ARSL-related condition | 2019-04-08 | 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). |