ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs)

dbSNP: rs1880707874
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Total submissions: 3
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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 RCV001268674 SCV001447771 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002226761 SCV002581163 likely pathogenic Cone-rod dystrophy 20 2022-07-28 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV002226761 SCV001468266 likely pathogenic Cone-rod dystrophy 20 2020-05-06 no assertion criteria provided clinical testing

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