ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del)

dbSNP: rs2137565671
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847517 SCV002104970 uncertain significance Hereditary spastic paraplegia 2016-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264396 SCV002545096 likely pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing SACS: PM2, PS4:Moderate, PM3:Supporting, PM4:Supporting, PP4
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV004764973 SCV005044567 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research
Clinical Genetics Laboratory, Skane University Hospital Lund RCV002264396 SCV005198373 likely pathogenic not provided 2023-02-15 criteria provided, single submitter clinical testing

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