ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5864-15C>T (rs397517864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667305 SCV000791736 uncertain significance Deafness, autosomal recessive 77 2017-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041220 SCV000064911 likely benign not specified 2013-02-06 criteria provided, single submitter clinical testing 5864-15C>T intron 37 in LOXHD1: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence.

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