ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11048-15C>T (rs74141403)

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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 RCV000155402 SCV000205089 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 11048-15C>T in Exon 57 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 2.6% (96/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs74141403).

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