ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.4107_4110dup (p.Ser1371fs)

dbSNP: rs1553641753
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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 RCV001268455 SCV001447400 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV003232279 SCV003929495 likely pathogenic See cases 2023-03-14 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2

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