ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6083G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825776 SCV000967243 likely benign not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Arg2028Gln variant in LOXHD1 is classified as likely benign due to a lack of conservation across species. At least three mammals have Glutamine (Gln) at t his position. It has been identified in 5/58060 European chromosomes by the Geno me Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs76028 6647). ACMG/AMP Criteria applied: BP4_Strong, PM2_Supporting.

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