ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.*23C>A (rs531276835)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000286458 SCV000429163 uncertain significance Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322672 SCV000429164 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377326 SCV000429165 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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