ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6398G>A (p.Arg2133His) (rs74316327)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041223 SCV000717120 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041223 SCV000064914 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Arg2133His in Exon 40 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 7.7% (196/2532) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs74316327).
PreventionGenetics RCV000041223 SCV000316019 benign not specified criteria provided, single submitter clinical testing

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