ClinVar Miner

Submissions for variant NM_012338.4(TSPAN12):c.66+1del

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Total submissions: 1
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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 RCV003598858 SCV004565341 likely pathogenic Exudative vitreoretinopathy 5 2024-02-16 criteria provided, single submitter clinical testing

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