ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.3368A>G (rs775177930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986539 SCV001135557 likely pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073837 SCV001239401 pathogenic Retinal dystrophy 2018-06-14 criteria provided, single submitter clinical testing

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