ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) (rs1461319754)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513450 SCV000608525 likely pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000513450 SCV000705703 pathogenic not provided 2017-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000672338 SCV000797435 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-25 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073947 SCV001239512 likely pathogenic Retinal dystrophy 2018-07-27 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375184 SCV001571790 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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