ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6084G>A (p.Arg2028=) (rs367833904)

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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 RCV000615313 SCV000711090 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg2028Arg in Exon 39 of LOXHD1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.1% (8/702) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).

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