ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) (rs527236126)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675147 SCV000800746 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-25 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132706 SCV000172659 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144482 SCV000189617 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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