ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)

dbSNP: rs1060499670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449607 SCV000537740 likely pathogenic Hereditary spastic paraplegia 4 2015-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848797 SCV002105225 likely pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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