Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036524 | SCV000060179 | benign | not specified | 2015-08-06 | criteria provided, single submitter | clinical testing | p.Gly422Ser in exon 20 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 42% (27817/66734) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2071307). |
Prevention |
RCV000036524 | SCV000304569 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000264113 | SCV000469904 | benign | Supravalvar aortic stenosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000319237 | SCV000469905 | benign | Cutis laxa, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000036524 | SCV000709166 | benign | not specified | 2017-06-06 | criteria provided, single submitter | clinical testing |