Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041210 | SCV000064901 | benign | not specified | 2012-12-10 | criteria provided, single submitter | clinical testing | Arg153Cys in exon 4 of LOXHD1: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (18/1384) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs112618498) |
Illumina Clinical Services Laboratory, |
RCV000273796 | SCV000408785 | uncertain significance | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000841281 | SCV000983241 | likely benign | not provided | 2018-04-09 | 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. |