ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+830C>T (rs375851293)

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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 RCV000217772 SCV000270364 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.Asp588Asp in exon 32A of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.15% (3/2058) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs375851293).

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