ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8315C>T (p.Thr2772Ile) (rs150807452)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724871 SCV000230604 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155405 SCV000205092 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Thr2772Ile in Exon 42 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (23/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs150807452).

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