Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000323909 | SCV000465998 | uncertain significance | Lissencephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000518762 | SCV000614863 | likely benign | not provided | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000518762 | SCV001848418 | benign | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000518762 | SCV004155706 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | RELN: BP4, BS1, BS2 |
Prevention |
RCV004530444 | SCV004736120 | benign | RELN-related disorder | 2019-04-04 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |