ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1134+12C>G (rs1555684960)

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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 RCV000612772 SCV000712527 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing c.1134+12C>G in Intro 8 of LOXHD1: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. Data from large population studies are insufficient to assess the frequency of t his variant.

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