Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154550 | SCV000204223 | benign | not specified | 2015-09-02 | criteria provided, single submitter | clinical testing | p.Gly581Arg in exon 25 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 9% (6470/66700) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs17855988). |
Prevention |
RCV000154550 | SCV000304573 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000330974 | SCV000469928 | benign | Supravalvar aortic stenosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000383163 | SCV000469929 | benign | Cutis laxa, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing |