ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) (rs1553250184)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667924 SCV000792449 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-23 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003251 SCV001161331 pathogenic Usher syndrome type 2 2019-06-23 no assertion criteria provided research

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