ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)

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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 RCV003127197 SCV003803649 pathogenic Retinitis pigmentosa 1 2023-02-16 criteria provided, single submitter clinical testing

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