ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4740+13G>T (rs570127242)

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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 RCV000214043 SCV000270383 likely benign not specified 2015-02-24 criteria provided, single submitter clinical testing c.4740+13G>T in Intron 30 of LOXHD1: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 0.45% (37/7974) of South Asian chromosomes by the Exom e Aggregation Consortium (ExAC,

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