ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5682C>T (p.His1894=) (rs114974101)

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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 RCV000155367 SCV000205054 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "His1894His in Exon 36 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 2.1% (15/702) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs114974101)."

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