ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1522G>A (p.Ala508Thr) (rs397517999)

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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 RCV000726707 SCV000702282 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041781 SCV000065477 uncertain significance not specified 2013-07-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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