Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202774 | SCV000258095 | uncertain significance | not specified | 2015-02-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000910621 | SCV001055499 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937771 | SCV004754704 | likely benign | NBAS-related disorder | 2019-03-18 | 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). |