ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)

dbSNP: rs1349682845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268158 SCV001446858 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462847 SCV004208132 pathogenic Retinitis pigmentosa 39 2023-10-25 criteria provided, single submitter clinical testing

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