Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036523 | SCV000060178 | likely benign | not specified | 2012-11-20 | criteria provided, single submitter | clinical testing | Val411Val in exon 20 of ELN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/122 African America n chromosomes from a broad population by the 1000 Genomes project (dbSNP rs20205 2596). |
Invitae | RCV002513388 | SCV003283917 | likely benign | Supravalvar aortic stenosis | 2024-01-02 | criteria provided, single submitter | clinical testing |