ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2473G>A (p.Val825Met) (rs36086089)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041200 SCV000064891 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val825Met in Exon 18 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 14.1% (99/702) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs36086089).
PreventionGenetics,PreventionGenetics RCV000041200 SCV000316003 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351477 SCV000408752 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000041200 SCV000714988 benign not specified 2017-08-03 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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