ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) (rs201863550)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004145 SCV001162879 pathogenic Usher syndrome, type 2A criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073611 SCV001239162 pathogenic Retinal dystrophy 2019-07-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091130 SCV001246996 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787741 SCV000926745 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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