ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)

dbSNP: rs267607085
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996411 SCV001151099 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV000007222 SCV001451061 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000007222 SCV002822947 pathogenic Hereditary spastic paraplegia 7 2023-01-20 criteria provided, single submitter clinical testing second pathogenic variant identified
OMIM RCV000007222 SCV000027418 pathogenic Hereditary spastic paraplegia 7 2010-05-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000996411 SCV001978458 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000996411 SCV001979445 likely pathogenic not provided no assertion criteria provided clinical testing

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