ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)

dbSNP: rs2148753960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848151 SCV002105598 likely pathogenic Hereditary spastic paraplegia 2018-02-01 criteria provided, single submitter clinical testing

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