ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11549-5del (rs34565443)

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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 RCV000154396 SCV000204063 benign not specified 2014-02-01 criteria provided, single submitter clinical testing 11549-5delT in intron 59 of USH2A: This variant is not expected to have clinica l significance because it has been identified in 2.0% (166/8241) of European Am erican chromosomes by the NHLBI Exome Sequencing Project, it occurs within a pol y-T tract, and is not predicted to impact splicing (http://evs.gs.washington.edu /EVS/; dbSNP rs34565443).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154396 SCV000231854 benign not specified 2014-08-29 criteria provided, single submitter clinical testing

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