ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.426G>A (p.Lys142=)

dbSNP: rs2148708873
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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 RCV001848169 SCV002105638 uncertain significance Hereditary spastic paraplegia 2021-06-13 criteria provided, single submitter clinical testing

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