ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11389+3A>T (rs753886165)

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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 RCV001074399 SCV001239979 pathogenic Retinal dystrophy 2019-08-07 criteria provided, single submitter clinical testing
Rui Chen Lab,Baylor College of Medicine RCV000515699 SCV000579424 pathogenic Usher syndrome, type 2A 2017-05-09 no assertion criteria provided research

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