ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) (rs1288381992)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670590 SCV000795460 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-17 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505042 SCV000598848 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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