ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1938-5C>G

gnomAD frequency: 0.00001  dbSNP: rs1168197465
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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 RCV001848500 SCV002105306 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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