ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)

dbSNP: rs372686312
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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 Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995639 SCV001149924 pathogenic Myoclonic dystonia 11 2019-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998848 SCV001155154 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing

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