ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1690+15C>T (rs781801012)

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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 RCV000600785 SCV000713284 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing c.1690+15C>T in intron 14 of MYO7A: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 1/9842 Ashkenazi Jewish and 11/111576 European chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs781801012).

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