ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9259-14A>C (rs561590242)

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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 RCV000221196 SCV000269953 benign not specified 2015-02-20 criteria provided, single submitter clinical testing c.9259-14A>C in intron 46 of USH2A: This variant is not expected to have clinica l significance because it has been identified in 0.7% (109/16498) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs561590242), and a cytosine "C" at this position does not diverg e from the 3' splice site consensus sequence.

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