ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs)

dbSNP: rs1197870764
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Total submissions: 2
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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 RCV001268576 SCV001447593 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127745 SCV003803785 pathogenic Developmental disorder 2022-09-23 criteria provided, single submitter clinical testing

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