ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) (rs112618498)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized 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,Illumina RCV000273796 SCV000408785 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx 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.

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