ClinVar Miner

Submissions for variant NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)

dbSNP: rs587776751
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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 RCV001268697 SCV001447824 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002286695 SCV002577538 pathogenic Hereditary spastic paraplegia 4 2022-02-11 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5
OMIM RCV000128610 SCV000032500 pathogenic Spondyloepiphyseal dysplasia tarda 2000-09-01 no assertion criteria provided literature only

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