Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001441650 | SCV001644581 | likely benign | Familial aplasia of the vermis | 2021-09-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501288 | SCV002804624 | likely benign | Joubert syndrome 3 | 2022-04-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895293 | SCV004714179 | likely benign | AHI1-related disorder | 2020-10-12 | 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). |