ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) (rs111033334)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824794 SCV000065505 pathogenic Rare genetic deafness 2009-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725261 SCV000335428 pathogenic not provided 2015-10-01 criteria provided, single submitter clinical testing
OMIM RCV000002456 SCV000022614 pathogenic Usher syndrome, type 2A 2007-02-01 no assertion criteria provided literature only
OMIM RCV000002457 SCV000022615 pathogenic Retinitis pigmentosa 39 2007-02-01 no assertion criteria provided literature only
Counsyl RCV000002457 SCV000797194 pathogenic Retinitis pigmentosa 39 2018-01-16 no assertion criteria provided clinical testing

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