Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036490 | SCV000060145 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Leu108Leu in Exon 04 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). |
Invitae | RCV001505553 | SCV001710460 | likely benign | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing |