ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) (rs148468627)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150959 SCV000198628 benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Arg2138Gln in exon 40 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 3.3% (390/11902) of East Asian c hromosomes by the Genome Aggregation Consortium(gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs148468627).
Illumina Clinical Services Laboratory,Illumina RCV000361167 SCV000408698 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150959 SCV000725227 benign not specified 2017-12-12 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.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV001002773 SCV000992418 uncertain significance Deafness, autosomal recessive 77 criteria provided, single submitter case-control
Invitae RCV000894464 SCV001038450 benign not provided 2019-02-22 criteria provided, single submitter clinical testing

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