ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3463A>G (p.Arg1155Gly) (rs1893566)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041206 SCV000716980 benign not specified 2017-05-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000403811 SCV000408736 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041206 SCV000064897 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Arg1155Gly in Exon 22 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 36.2% (254/702) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1893566).
PreventionGenetics RCV000041206 SCV000316007 benign not specified criteria provided, single submitter clinical testing

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