ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) (rs111033263)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668014 SCV000792555 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041960 SCV000065656 likely pathogenic Rare genetic deafness 2007-08-28 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787745 SCV000926750 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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