ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)

dbSNP: rs1657965422
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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 RCV001199583 SCV001162754 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Baylor Genetics RCV003467566 SCV004206334 pathogenic Retinitis pigmentosa 39 2023-02-09 criteria provided, single submitter clinical testing

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