ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.785-16_785-15del (rs150209313)

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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 RCV000213860 SCV000269951 benign not specified 2015-05-05 criteria provided, single submitter clinical testing c.785-16_785-15delAT in intron 4 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.6% (134/8536) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs150209313).

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