ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2809+1G>A (rs759433119)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986541 SCV001135559 pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075468 SCV001241091 pathogenic Retinal dystrophy 2018-10-11 criteria provided, single submitter clinical testing

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