Submissions for variant NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)

dbSNP: rs368541637

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001200106	SCV001370978	likely pathogenic	not provided	2020-06-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847187	SCV002105859	uncertain significance	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	RCV001542601	SCV005061876	likely pathogenic	Hereditary spastic paraplegia 7	2022-01-01	criteria provided, single submitter	research
Genomics England Pilot Project, Genomics England	RCV001542601	SCV001760392	pathogenic	Hereditary spastic paraplegia 7		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001200106	SCV001959575	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001200106	SCV001968773	uncertain significance	not provided		no assertion criteria provided	clinical testing