ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) (rs183531840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667751 SCV000792250 likely benign Deafness, autosomal recessive 77 2017-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000155151 SCV000718005 likely benign not specified 2018-01-12 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 RCV000155151 SCV000204837 benign not specified 2014-09-09 criteria provided, single submitter clinical testing Arg343His in Exon 08 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 2.0% (27/1384) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS).

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