ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3] (rs759572835)

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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 RCV000215847 SCV000270550 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing c.3924+31_3924+46dup in intron 30 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus seq uence and splice prediction tools do not suggest an impact to the canonical spli ce site. It has been identified in 5/19858 European chromosomes by the Exome Ag gregation Consortium (ExAC,, though the ability of these studies to accurately detect indels may be limited.

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