ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7039G>A (p.Val2347Met) (rs727503721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668752 SCV000793402 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726833 SCV000703484 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152596 SCV000201883 uncertain significance not specified 2015-02-23 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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