Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000917609 | SCV001062894 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000678482 | SCV000804545 | uncertain significance | Congenital contracture | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004535693 | SCV004754453 | likely benign | PIEZO2-related disorder | 2019-06-27 | no assertion criteria provided | 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). |