ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1443G>A (p.Pro481=) (rs184747932)

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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 RCV000614761 SCV000712570 likely benign not specified 2016-10-17 criteria provided, single submitter clinical testing p.Pro481Pro variant in exon 11 of LOXHD1: This variant is not expected to have c linical significance because it does not alter an amino acid residue, is not loc ated within the splice consensus sequence. It has been identified in 1/7912 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs184747932).

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