ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)

dbSNP: rs527236127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073355 SCV001238895 likely pathogenic Retinal dystrophy 2018-12-21 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132704 SCV000172657 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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