ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1617-2A>T

dbSNP: rs1553319524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391350 SCV001451010 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing

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