Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239044 | SCV000297182 | benign | not specified | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000288339 | SCV000466000 | uncertain significance | Lissencephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672683 | SCV001882709 | benign | not provided | 2015-09-28 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000239044 | SCV001919741 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000239044 | SCV001964994 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004544680 | SCV004797559 | benign | RELN-related disorder | 2019-05-09 | no assertion criteria provided | 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). |