ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2168-1G>C (rs748961218)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672901 SCV000798053 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-02-21 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075017 SCV001240627 pathogenic Retinal dystrophy 2018-02-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092379 SCV001248860 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing

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