ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6558+9G>A (rs111033184)

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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 RCV000036239 SCV000059891 likely benign not specified 2014-11-18 criteria provided, single submitter clinical testing c.6558+9G>A in intron 48 of MYO7A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and is not predicted to impact splicing. It has also been identified in 0.1% (4/4228) of African American chromosomes from a broad population by the NHL BI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs111033184 ).

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