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

dbSNP: rs267607085

Total submissions: 7

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
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	RCV000007222	SCV005044598	pathogenic	Hereditary spastic paraplegia 7	2022-01-01	criteria provided, single submitter	research
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