ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6159del (p.Glu2054fs) (rs769838859)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596278 SCV000702407 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074344 SCV001239919 likely pathogenic Retinal dystrophy 2019-07-16 criteria provided, single submitter clinical testing
Counsyl RCV000667726 SCV000792222 likely pathogenic Retinitis pigmentosa 39 2017-06-12 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003270 SCV001161353 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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