ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4720G>A (p.Glu1574Lys) (rs78427072)

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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 RCV000215808 SCV000270381 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Glu1574Lys in exon 30 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.8% (23/2750) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs78427072).

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