ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4953C>T (p.Ala1651=)

dbSNP: rs2125575026
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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 RCV001848484 SCV002105253 uncertain significance Hereditary spastic paraplegia 2017-11-05 criteria provided, single submitter clinical testing

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