ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.68dup (p.Asp23fs)

dbSNP: rs768660614
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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 RCV001543542 SCV001762176 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225378 SCV000282566 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000225378 SCV005073334 pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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