Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036475 | SCV000060130 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Ile713Met in Exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (27/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143708308). |
EGL Genetic Diagnostics, |
RCV000036475 | SCV000341821 | likely benign | not specified | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000036475 | SCV000730598 | likely benign | not specified | 2017-06-22 | 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 | RCV000671686 | SCV000796686 | likely benign | Pendred syndrome | 2017-12-28 | criteria provided, single submitter | clinical testing |