ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1788A>G (p.Thr596=) (rs368683058)

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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 RCV000222001 SCV000270368 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Thr596Thr in Exon 13 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loca ted within the splice consensus sequence. It has been identified in 1/2758 Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs368683058).

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