ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11047+1G>A (rs201730567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670491 SCV000795348 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597898 SCV000707630 pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing

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