ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) (rs774573692)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593419 SCV000700640 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing
Counsyl RCV000666089 SCV000790329 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-16 criteria provided, single submitter clinical testing

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