ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3449A>G (p.Gln1150Arg) (rs201576880)

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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 RCV000606786 SCV000711094 likely benign not specified 2016-06-04 criteria provided, single submitter clinical testing p.Gln1150Arg in exon 22 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.36% (10/2758) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs201576880). In addition, computational tools and conservation analysis does not suggest an impact to the protein.

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