Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002562647 | SCV001682320 | likely benign | Rienhoff syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501650 | SCV002807552 | likely benign | Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921011 | SCV004727947 | likely benign | TGFB3-related disorder | 2022-05-13 | 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). |