ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) (rs1571783742)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986528 SCV001135544 pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075207 SCV001240821 likely pathogenic Retinal dystrophy 2018-11-15 criteria provided, single submitter clinical testing

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