ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1797+8G>A (rs781801358)

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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 RCV000601404 SCV000713062 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing c.1797+G>A in intron 15 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/11118 Latino chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs781801358).

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