ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2580G>A (p.Ala860=) (rs118140267)

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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 RCV000217222 SCV000270370 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Ala860Ala in exon 18 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 1.2% (8/624) of Ea st Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs118140267).

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