Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036450 | SCV000060105 | benign | not specified | 2012-08-24 | criteria provided, single submitter | clinical testing | Gly5Gly in exon 2 of SLC26A4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 1.4% (54/3922) of African American chromosomes from a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/). |
Gene |
RCV000036450 | SCV000721595 | likely benign | not specified | 2017-07-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Counsyl | RCV000674869 | SCV000800273 | likely benign | Pendred syndrome | 2018-05-29 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000036450 | SCV000859388 | benign | not specified | 2018-02-13 | criteria provided, single submitter | clinical testing |