Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001510101 | SCV001717043 | benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948490 | SCV004758245 | likely benign | P3H2-related disorder | 2019-12-02 | 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). |