Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203165 | SCV000257745 | uncertain significance | not specified | 2015-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515495 | SCV003494809 | benign | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897439 | SCV004710674 | likely benign | AHDC1-related disorder | 2021-04-28 | 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). |