ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)

dbSNP: rs527236140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986524 SCV001135539 benign Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132699 SCV000172652 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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