ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) (rs527236122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490337 SCV000267553 uncertain significance Usher syndrome, type 2A 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000675139 SCV000800727 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-11 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132708 SCV000172661 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.

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