ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8559-7G>A (rs199618999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152593 SCV000201867 likely benign not specified 2014-09-09 criteria provided, single submitter clinical testing c.8559-7G>A in intron 42 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.3% (31/10340) of African chrom osomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; dbSN P rs199618999).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727256 SCV000707021 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing

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