Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000294299 | SCV000466003 | uncertain significance | Lissencephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000503901 | SCV000596753 | uncertain significance | not specified | 2016-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544682 | SCV004784494 | likely benign | RELN-related disorder | 2023-12-24 | 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). |