ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3812-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199581 SCV001162752 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092378 SCV001248854 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing

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