ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.549_552del (p.Phe183fs)

dbSNP: rs1554352952
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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 Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578388 SCV000680373 likely pathogenic Myoclonic dystonia 11 2017-09-08 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268180 SCV001446908 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001268180 SCV001502583 likely pathogenic not provided 2020-12-01 criteria provided, single submitter clinical testing

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