ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys)

dbSNP: rs2125976707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391364 SCV001451097 pathogenic Hereditary spastic paraplegia 30 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV001391364 SCV005091530 likely pathogenic Hereditary spastic paraplegia 30 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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