Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002033023 | SCV002115101 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536361 | SCV004742523 | likely benign | CC2D2A-related disorder | 2019-11-20 | 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). |