Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002970659 | SCV003281540 | likely benign | Familial aplasia of the vermis | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003434538 | SCV004160346 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | AHI1: BP4, BP7 |
Prevention |
RCV003984310 | SCV004796600 | likely benign | AHI1-related disorder | 2019-04-12 | 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). |